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dbVar

Database of genomic structural variation

nsv4769323

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:518,510

Description:GRCh37/hg19 3q26.33(chr3:180913778-181432287)x1 AND Anophthalmia/microphthalmia-esophageal atresia syndrome
Publication(s):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: 1112 SVs from 68 studies. See in: genome view

Remapped(Score: Perfect):181,195,990-181,714,499

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4769323	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	181,195,990	181,714,499
nsv4769323	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	180,913,778	181,432,287

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16297146	copy number loss	Multiple	Multiple	Anophthalmia/microphthalmia-esophageal atresia syndrome; MICROPHTHALMIA, SYNDROMIC 3; MCOPS3; Microphthalmia syndromic 3; SOX2-Related Eye Disorders	Pathogenic	ClinVar	RCV001267851.1, VCV000986760.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16297146	Remapped	Perfect	NC_000003.12:g.(?_ 181195990)_(181714 499_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	181,195,990	181,714,499
nssv16297146	Submitted genomic		NC_000003.11:g.(?_ 180913778)_(181432 287_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	180,913,778	181,432,287

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	Copy number
nssv16297146	GRCh37: NC_000003.11:g.(?_180913778)_(181432287_?)del	copy number loss	germline	Anophthalmia/microphthalmia-esophageal atresia syndrome; MICROPHTHALMIA, SYNDROMIC 3; MCOPS3; Microphthalmia syndromic 3; SOX2-Related Eye Disorders	Pathogenic	ClinVar	RCV001267851.1, VCV000986760.1	1

No genotype data were submitted for this variant

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