Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv6634512

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:2,605,241

Description:NC_000003.12:g.(179547548_181649736)_(18180882
1_182152788)del AND Anophthalmia/microphthalmia-esophageal atresia syndrome
Publication(s):Williamson et al. 2006, Williamson et al. 2006

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: 5659 SVs from 90 studies. See in: genome view

Submitted genomic179,547,548-182,152,788

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv6634512	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	179,547,548	181,649,736	181,808,821	182,152,788
nsv6634512	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	179,265,336	181,367,524	181,526,609	181,870,576

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18326659	deletion	Multiple	Multiple	Anophthalmia/microphthalmia-esophageal atresia syndrome; MICROPHTHALMIA, SYNDROMIC 3; MCOPS3; Microphthalmia syndromic 3; SOX2-Related Eye Disorders	Pathogenic	ClinVar	RCV000013667.26, VCV000012819.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv18326659	Submitted genomic		NC_000003.12:g.(17 9547548_181649736) _(181808821_182152 788)del	GRCh38 (hg38)		NC_000003.12	Chr3	179,547,548	181,649,736	181,808,821	182,152,788
nssv18326659	Remapped	Perfect	NC_000003.11:g.(17 9265336_181367524) _(181526609_181870 576)del	GRCh37.p13	First Pass	NC_000003.11	Chr3	179,265,336	181,367,524	181,526,609	181,870,576

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18326659	GRCh38: NC_000003.12:g.(179547548_181649736)_(181808821_182152788)del	deletion	germline	Anophthalmia/microphthalmia-esophageal atresia syndrome; MICROPHTHALMIA, SYNDROMIC 3; MCOPS3; Microphthalmia syndromic 3; SOX2-Related Eye Disorders	Pathogenic	ClinVar	RCV000013667.26, VCV000012819.1

No genotype data were submitted for this variant

You are here: NCBI