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dbVar

Database of genomic structural variation

nsv6314397

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:
46;XX;t(19;21)(q13.3;q22.3)dn AND multiple conditions
Publication(s):Pyeritz et al. 2012, 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: 109 SVs from 18 studies. See in: genome view

Remapped(Score: Perfect):38,649,916-38,649,916

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314397	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	38,649,916	38,649,916	+
nsv6314397	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	38,649,917	38,649,917	+
nsv6314397	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	37,404,661	37,404,661	+
nsv6314397	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	37,404,662	37,404,662	+
nsv6314397	Remapped	Perfect	GRCh38.p12	PATCHES	Second Pass	NW_014040929.1	Chr19\|NW_0 14040929.1	59,552	59,552	+
nsv6314397	Remapped	Perfect	GRCh38.p12	PATCHES	Second Pass	NW_014040929.1	Chr19\|NW_0 14040929.1	59,553	59,553	+
nsv6314397	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	39,140,556	39,140,556	+
nsv6314397	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	39,140,557	39,140,557	+
nsv6314397	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	38,776,963	38,776,963	+
nsv6314397	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	38,776,964	38,776,964	+

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975815	interchromosomal translocation	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Autistic behavior; Autistic behavior; Broad foot; Broad foot; Congenital pulmonary valvar stenosis; Constipation; Constipation; Delayed closure of the anterior fontanelle; Delayed closure of the anterior fontanelle; Delayed speech and language development; Delayed speech and language development; Dyscalculia; Dyscalculia; EPICANTHUS; Epicanthus; Epicanthus; Finger syndactyly; Finger syndactyly; Hypermetropia; Hypermetropia; Hypertonia; Hypertonia; Macrotia; Macrotia; Microcephaly; Microcephaly; Motor delay; Motor delay; Overfolded helix; Overfolded helix; PECTUS EXCAVATUM; PULMONIC STENOSIS; Pectus excavatum; Pectus excavatum; Prominent nasal bridge; Prominent nasal bridge; Prominent nose; Prominent nose; Ptosis; Ptosis; Pulmonic stenosis; Pulmonic stenosis; Recurrent otitis media; Recurrent otitis media; Specific learning disability; Specific learning disability; Thin upper lip vermilion; Thin upper lip vermilion	Pathogenic	ClinVar	RCV000258708.3, VCV000268035.1
nssv17975814	interchromosomal translocation	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Autistic behavior; Autistic behavior; Broad foot; Broad foot; Congenital pulmonary valvar stenosis; Constipation; Constipation; Delayed closure of the anterior fontanelle; Delayed closure of the anterior fontanelle; Delayed speech and language development; Delayed speech and language development; Dyscalculia; Dyscalculia; EPICANTHUS; Epicanthus; Epicanthus; Finger syndactyly; Finger syndactyly; Hypermetropia; Hypermetropia; Hypertonia; Hypertonia; Macrotia; Macrotia; Microcephaly; Microcephaly; Motor delay; Motor delay; Overfolded helix; Overfolded helix; PECTUS EXCAVATUM; PULMONIC STENOSIS; Pectus excavatum; Pectus excavatum; Prominent nasal bridge; Prominent nasal bridge; Prominent nose; Prominent nose; Ptosis; Ptosis; Pulmonic stenosis; Pulmonic stenosis; Recurrent otitis media; Recurrent otitis media; Specific learning disability; Specific learning disability; Thin upper lip vermilion; Thin upper lip vermilion	Pathogenic	ClinVar	RCV000258708.3, VCV000268035.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17975815	Remapped	Perfect	GRCh38.p12	Second Pass	NW_014040929.1	Chr19\|NW_0 14040929.1	59,552	59,552	+
nssv17975814	Remapped	Perfect	GRCh38.p12	Second Pass	NW_014040929.1	Chr19\|NW_0 14040929.1	59,553	59,553	+
nssv17975815	Remapped	Perfect	GRCh38.p12	First Pass	NC_000019.10	Chr19	38,649,916	38,649,916	+
nssv17975814	Remapped	Perfect	GRCh38.p12	First Pass	NC_000019.10	Chr19	38,649,917	38,649,917	+
nssv17975815	Remapped	Perfect	GRCh38.p12	First Pass	NC_000021.9	Chr21	37,404,661	37,404,661	+
nssv17975814	Remapped	Perfect	GRCh38.p12	First Pass	NC_000021.9	Chr21	37,404,662	37,404,662	+
nssv17975815	Submitted genomic		GRCh37 (hg19)		NC_000019.9	Chr19	39,140,556	39,140,556	+
nssv17975814	Submitted genomic		GRCh37 (hg19)		NC_000019.9	Chr19	39,140,557	39,140,557	+
nssv17975815	Submitted genomic		GRCh37 (hg19)		NC_000021.8	Chr21	38,776,963	38,776,963	+
nssv17975814	Submitted genomic		GRCh37 (hg19)		NC_000021.8	Chr21	38,776,964	38,776,964	+

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
nssv17975815	interchromosomal translocation	de novo	Abnormal facial shape; Abnormal facial shape; Autistic behavior; Autistic behavior; Broad foot; Broad foot; Congenital pulmonary valvar stenosis; Constipation; Constipation; Delayed closure of the anterior fontanelle; Delayed closure of the anterior fontanelle; Delayed speech and language development; Delayed speech and language development; Dyscalculia; Dyscalculia; EPICANTHUS; Epicanthus; Epicanthus; Finger syndactyly; Finger syndactyly; Hypermetropia; Hypermetropia; Hypertonia; Hypertonia; Macrotia; Macrotia; Microcephaly; Microcephaly; Motor delay; Motor delay; Overfolded helix; Overfolded helix; PECTUS EXCAVATUM; PULMONIC STENOSIS; Pectus excavatum; Pectus excavatum; Prominent nasal bridge; Prominent nasal bridge; Prominent nose; Prominent nose; Ptosis; Ptosis; Pulmonic stenosis; Pulmonic stenosis; Recurrent otitis media; Recurrent otitis media; Specific learning disability; Specific learning disability; Thin upper lip vermilion; Thin upper lip vermilion	Pathogenic	ClinVar	RCV000258708.3, VCV000268035.1
nssv17975814	interchromosomal translocation	de novo	Abnormal facial shape; Abnormal facial shape; Autistic behavior; Autistic behavior; Broad foot; Broad foot; Congenital pulmonary valvar stenosis; Constipation; Constipation; Delayed closure of the anterior fontanelle; Delayed closure of the anterior fontanelle; Delayed speech and language development; Delayed speech and language development; Dyscalculia; Dyscalculia; EPICANTHUS; Epicanthus; Epicanthus; Finger syndactyly; Finger syndactyly; Hypermetropia; Hypermetropia; Hypertonia; Hypertonia; Macrotia; Macrotia; Microcephaly; Microcephaly; Motor delay; Motor delay; Overfolded helix; Overfolded helix; PECTUS EXCAVATUM; PULMONIC STENOSIS; Pectus excavatum; Pectus excavatum; Prominent nasal bridge; Prominent nasal bridge; Prominent nose; Prominent nose; Ptosis; Ptosis; Pulmonic stenosis; Pulmonic stenosis; Recurrent otitis media; Recurrent otitis media; Specific learning disability; Specific learning disability; Thin upper lip vermilion; Thin upper lip vermilion	Pathogenic	ClinVar	RCV000258708.3, VCV000268035.1

No genotype data were submitted for this variant

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