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dbVar

Database of genomic structural variation

nsv6314478

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:complex chromosomal rearrangement
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:
46;XX;t(7;13)(p13;q34)dn AND multiple conditions
Publication(s):Longoni et al. 2006, Redin et al. 2016

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 56 SVs from 19 studies. See in: genome view

Remapped(Score: Perfect):49,238,133-49,238,133

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314478	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	49,238,133	49,238,133	-
nsv6314478	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	49,238,291	49,238,291	+
nsv6314478	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	101,317,547	101,317,547	+
nsv6314478	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	101,321,256	101,321,256	-
nsv6314478	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	108,561,681	108,561,681	-
nsv6314478	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	108,561,710	108,561,710	-
nsv6314478	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	49,277,729	49,277,729	-
nsv6314478	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	49,277,887	49,277,887	+
nsv6314478	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	101,969,898	101,969,898	+
nsv6314478	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	101,973,607	101,973,607	-
nsv6314478	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	109,214,029	109,214,029	-
nsv6314478	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	109,214,058	109,214,058	-

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975964	interchromosomal translocation	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Abnormality of mouth shape; Abnormality of mouth shape; Anteverted nares; Anteverted nares; Congenital diaphragmatic hernia; Congenital diaphragmatic hernia; Congenital diaphragmatic hernia; Constipation; Constipation; DIAPHRAGMATIC HERNIA, CONGENITAL; Diaphragmatic hernia; Downslanted palpebral fissures; Downslanted palpebral fissures; Eczema; Eczema; Feeding difficulties; Feeding difficulties; Hernias, Diaphragmatic, Congenital; High palate; High palate; Hip dislocation; Hip dislocation; Hypotonia; Muscular Dystrophies; Muscular dystrophy; Muscular dystrophy; Muscular hypotonia; Protruding ear; Protruding ear; Seizure; Seizures; Short chin; Short chin; Sparse and thin eyebrow; Specific learning disability; Specific learning disability; Tachypnea; Tachypnea; Talipes; Talipes; obsolete Sparse and thin eyebrow	Pathogenic	ClinVar	RCV000258754.1, VCV000267841.1
nssv17975962	interchromosomal translocation	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Abnormality of mouth shape; Abnormality of mouth shape; Anteverted nares; Anteverted nares; Congenital diaphragmatic hernia; Congenital diaphragmatic hernia; Congenital diaphragmatic hernia; Constipation; Constipation; DIAPHRAGMATIC HERNIA, CONGENITAL; Diaphragmatic hernia; Downslanted palpebral fissures; Downslanted palpebral fissures; Eczema; Eczema; Feeding difficulties; Feeding difficulties; Hernias, Diaphragmatic, Congenital; High palate; High palate; Hip dislocation; Hip dislocation; Hypotonia; Muscular Dystrophies; Muscular dystrophy; Muscular dystrophy; Muscular hypotonia; Protruding ear; Protruding ear; Seizure; Seizures; Short chin; Short chin; Sparse and thin eyebrow; Specific learning disability; Specific learning disability; Tachypnea; Tachypnea; Talipes; Talipes; obsolete Sparse and thin eyebrow	Pathogenic	ClinVar	RCV000258754.1, VCV000267841.1
nssv17975963	intrachromosomal translocation	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Abnormality of mouth shape; Abnormality of mouth shape; Anteverted nares; Anteverted nares; Congenital diaphragmatic hernia; Congenital diaphragmatic hernia; Congenital diaphragmatic hernia; Constipation; Constipation; DIAPHRAGMATIC HERNIA, CONGENITAL; Diaphragmatic hernia; Downslanted palpebral fissures; Downslanted palpebral fissures; Eczema; Eczema; Feeding difficulties; Feeding difficulties; Hernias, Diaphragmatic, Congenital; High palate; High palate; Hip dislocation; Hip dislocation; Hypotonia; Muscular Dystrophies; Muscular dystrophy; Muscular dystrophy; Muscular hypotonia; Protruding ear; Protruding ear; Seizure; Seizures; Short chin; Short chin; Sparse and thin eyebrow; Specific learning disability; Specific learning disability; Tachypnea; Tachypnea; Talipes; Talipes; obsolete Sparse and thin eyebrow	Pathogenic	ClinVar	RCV000258754.1, VCV000267841.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17975964	Remapped	Perfect	GRCh38.p12	First Pass	NC_000007.14	Chr7	49,238,133	49,238,133	-
nssv17975962	Remapped	Perfect	GRCh38.p12	First Pass	NC_000007.14	Chr7	49,238,291	49,238,291	+
nssv17975963	Remapped	Perfect	GRCh38.p12	First Pass	NC_000013.11	Chr13	101,317,547	101,317,547	+
nssv17975964	Remapped	Perfect	GRCh38.p12	First Pass	NC_000013.11	Chr13	101,321,256	101,321,256	-
nssv17975963	Remapped	Perfect	GRCh38.p12	First Pass	NC_000013.11	Chr13	108,561,681	108,561,681	-
nssv17975962	Remapped	Perfect	GRCh38.p12	First Pass	NC_000013.11	Chr13	108,561,710	108,561,710	-
nssv17975964	Submitted genomic		GRCh37 (hg19)		NC_000007.13	Chr7	49,277,729	49,277,729	-
nssv17975962	Submitted genomic		GRCh37 (hg19)		NC_000007.13	Chr7	49,277,887	49,277,887	+
nssv17975963	Submitted genomic		GRCh37 (hg19)		NC_000013.10	Chr13	101,969,898	101,969,898	+
nssv17975964	Submitted genomic		GRCh37 (hg19)		NC_000013.10	Chr13	101,973,607	101,973,607	-
nssv17975963	Submitted genomic		GRCh37 (hg19)		NC_000013.10	Chr13	109,214,029	109,214,029	-
nssv17975962	Submitted genomic		GRCh37 (hg19)		NC_000013.10	Chr13	109,214,058	109,214,058	-

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975964	interchromosomal translocation	de novo	Abnormal facial shape; Abnormal facial shape; Abnormality of mouth shape; Abnormality of mouth shape; Anteverted nares; Anteverted nares; Congenital diaphragmatic hernia; Congenital diaphragmatic hernia; Congenital diaphragmatic hernia; Constipation; Constipation; DIAPHRAGMATIC HERNIA, CONGENITAL; Diaphragmatic hernia; Downslanted palpebral fissures; Downslanted palpebral fissures; Eczema; Eczema; Feeding difficulties; Feeding difficulties; Hernias, Diaphragmatic, Congenital; High palate; High palate; Hip dislocation; Hip dislocation; Hypotonia; Muscular Dystrophies; Muscular dystrophy; Muscular dystrophy; Muscular hypotonia; Protruding ear; Protruding ear; Seizure; Seizures; Short chin; Short chin; Sparse and thin eyebrow; Specific learning disability; Specific learning disability; Tachypnea; Tachypnea; Talipes; Talipes; obsolete Sparse and thin eyebrow	Pathogenic	ClinVar	RCV000258754.1, VCV000267841.1
nssv17975962	interchromosomal translocation	de novo	Abnormal facial shape; Abnormal facial shape; Abnormality of mouth shape; Abnormality of mouth shape; Anteverted nares; Anteverted nares; Congenital diaphragmatic hernia; Congenital diaphragmatic hernia; Congenital diaphragmatic hernia; Constipation; Constipation; DIAPHRAGMATIC HERNIA, CONGENITAL; Diaphragmatic hernia; Downslanted palpebral fissures; Downslanted palpebral fissures; Eczema; Eczema; Feeding difficulties; Feeding difficulties; Hernias, Diaphragmatic, Congenital; High palate; High palate; Hip dislocation; Hip dislocation; Hypotonia; Muscular Dystrophies; Muscular dystrophy; Muscular dystrophy; Muscular hypotonia; Protruding ear; Protruding ear; Seizure; Seizures; Short chin; Short chin; Sparse and thin eyebrow; Specific learning disability; Specific learning disability; Tachypnea; Tachypnea; Talipes; Talipes; obsolete Sparse and thin eyebrow	Pathogenic	ClinVar	RCV000258754.1, VCV000267841.1
nssv17975963	intrachromosomal translocation	de novo	Abnormal facial shape; Abnormal facial shape; Abnormality of mouth shape; Abnormality of mouth shape; Anteverted nares; Anteverted nares; Congenital diaphragmatic hernia; Congenital diaphragmatic hernia; Congenital diaphragmatic hernia; Constipation; Constipation; DIAPHRAGMATIC HERNIA, CONGENITAL; Diaphragmatic hernia; Downslanted palpebral fissures; Downslanted palpebral fissures; Eczema; Eczema; Feeding difficulties; Feeding difficulties; Hernias, Diaphragmatic, Congenital; High palate; High palate; Hip dislocation; Hip dislocation; Hypotonia; Muscular Dystrophies; Muscular dystrophy; Muscular dystrophy; Muscular hypotonia; Protruding ear; Protruding ear; Seizure; Seizures; Short chin; Short chin; Sparse and thin eyebrow; Specific learning disability; Specific learning disability; Tachypnea; Tachypnea; Talipes; Talipes; obsolete Sparse and thin eyebrow	Pathogenic	ClinVar	RCV000258754.1, VCV000267841.1

No genotype data were submitted for this variant

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