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dbVar

Database of genomic structural variation

nsv6314419

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;XY;t(3;18)(q13.2;q11.2)dn AND multiple conditions
Publication(s):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: 83 SVs from 24 studies. See in: genome view

Remapped(Score: Perfect):104,908,778-104,908,778

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314419	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	104,908,778	104,908,778	+
nsv6314419	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	104,908,785	104,908,785	+
nsv6314419	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	21,918,437	21,918,437	+
nsv6314419	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	21,918,439	21,918,439	+
nsv6314419	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	104,627,622	104,627,622	+
nsv6314419	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	104,627,629	104,627,629	+
nsv6314419	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	19,498,398	19,498,398	+
nsv6314419	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	19,498,400	19,498,400	+

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975392	interchromosomal translocation	Multiple	Multiple	Abnormal calvaria morphology; Abnormal calvaria morphology; Abnormal facial shape; Abnormal facial shape; Abnormal ileum morphology; Abnormal ileum morphology; Bronchogenic cyst; Bronchogenic cyst; CEREBELLAR HYPOPLASIA; Cerebellar hypoplasia; Cerebellar hypoplasia-tapetoretinal degeneration syndrome; Congenital cerebellar hypoplasia; obsolete Abnormality of calvarial morphology	Uncertain significance	ClinVar	RCV000258579.1, VCV000267908.1
nssv17975393	interchromosomal translocation	Multiple	Multiple	Abnormal calvaria morphology; Abnormal calvaria morphology; Abnormal facial shape; Abnormal facial shape; Abnormal ileum morphology; Abnormal ileum morphology; Bronchogenic cyst; Bronchogenic cyst; CEREBELLAR HYPOPLASIA; Cerebellar hypoplasia; Cerebellar hypoplasia-tapetoretinal degeneration syndrome; Congenital cerebellar hypoplasia; obsolete Abnormality of calvarial morphology	Uncertain significance	ClinVar	RCV000258579.1, VCV000267908.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17975392	Remapped	Perfect	GRCh38.p12	First Pass	NC_000003.12	Chr3	104,908,778	104,908,778	+
nssv17975393	Remapped	Perfect	GRCh38.p12	First Pass	NC_000003.12	Chr3	104,908,785	104,908,785	+
nssv17975392	Remapped	Perfect	GRCh38.p12	First Pass	NC_000018.10	Chr18	21,918,437	21,918,437	+
nssv17975393	Remapped	Perfect	GRCh38.p12	First Pass	NC_000018.10	Chr18	21,918,439	21,918,439	+
nssv17975392	Submitted genomic		GRCh37 (hg19)		NC_000003.11	Chr3	104,627,622	104,627,622	+
nssv17975393	Submitted genomic		GRCh37 (hg19)		NC_000003.11	Chr3	104,627,629	104,627,629	+
nssv17975392	Submitted genomic		GRCh37 (hg19)		NC_000018.9	Chr18	19,498,398	19,498,398	+
nssv17975393	Submitted genomic		GRCh37 (hg19)		NC_000018.9	Chr18	19,498,400	19,498,400	+

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
nssv17975392	interchromosomal translocation	de novo	Abnormal calvaria morphology; Abnormal calvaria morphology; Abnormal facial shape; Abnormal facial shape; Abnormal ileum morphology; Abnormal ileum morphology; Bronchogenic cyst; Bronchogenic cyst; CEREBELLAR HYPOPLASIA; Cerebellar hypoplasia; Cerebellar hypoplasia-tapetoretinal degeneration syndrome; Congenital cerebellar hypoplasia; obsolete Abnormality of calvarial morphology	Uncertain significance	ClinVar	RCV000258579.1, VCV000267908.1
nssv17975393	interchromosomal translocation	de novo	Abnormal calvaria morphology; Abnormal calvaria morphology; Abnormal facial shape; Abnormal facial shape; Abnormal ileum morphology; Abnormal ileum morphology; Bronchogenic cyst; Bronchogenic cyst; CEREBELLAR HYPOPLASIA; Cerebellar hypoplasia; Cerebellar hypoplasia-tapetoretinal degeneration syndrome; Congenital cerebellar hypoplasia; obsolete Abnormality of calvarial morphology	Uncertain significance	ClinVar	RCV000258579.1, VCV000267908.1

No genotype data were submitted for this variant

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