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dbVar

Database of genomic structural variation

nsv4451087

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:1,160,611

Description:Single allele AND Marfanoid habitus and intellectual disability

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: 3814 SVs from 100 studies. See in: genome view

Remapped(Score: Perfect):176,448,406-177,609,016

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4451087	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	176,448,406	177,609,016
nsv4451087	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	175,875,407	177,036,017

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15776774	deletion	Multiple	Multiple	Marfanoid habitus and intellectual disability	Likely pathogenic	ClinVar	RCV000851176.1, VCV000690278.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv15776774	Remapped	Perfect	NC_000005.10:g.176 448406_177609016de l	GRCh38.p12	First Pass	NC_000005.10	Chr5	176,448,406	177,609,016
nssv15776774	Submitted genomic		NC_000005.9:g.1758 75407_177036017del	GRCh37 (hg19)		NC_000005.9	Chr5	175,875,407	177,036,017

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
nssv15776774	GRCh37: NC_000005.9:g.175875407_177036017del	deletion	de novo	Marfanoid habitus and intellectual disability	Likely pathogenic	ClinVar	RCV000851176.1, VCV000690278.1	1

No genotype data were submitted for this variant

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