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dbVar

Database of genomic structural variation

nsv7095020

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:7,596

Description:NC_000016.9:g.(?_3823732)_(3831327_?)del AND Rubinstein-Taybi syndrome
Publication(s):Stevens et al. 2002

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: 87 SVs from 25 studies. See in: genome view

Remapped(Score: Perfect):3,773,731-3,781,326

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095020	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	3,773,731	3,781,326
nsv7095020	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	3,823,732	3,831,327

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18789810	deletion	Multiple	Multiple	Rubinstein-Taybi Syndrome; Rubinstein-Taybi syndrome; Rubinstein-Taybi syndrome	Pathogenic	ClinVar	RCV003113462.2, VCV002425095.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18789810	Remapped	Perfect	NC_000016.10:g.(?_ 3773731)_(3781326_ ?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	3,773,731	3,781,326
nssv18789810	Submitted genomic		NC_000016.9:g.(?_3 823732)_(3831327_? )del	GRCh37 (hg19)		NC_000016.9	Chr16	3,823,732	3,831,327

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
nssv18789810	GRCh37: NC_000016.9:g.(?_3823732)_(3831327_?)del	deletion	germline	Rubinstein-Taybi Syndrome; Rubinstein-Taybi syndrome; Rubinstein-Taybi syndrome	Pathogenic	ClinVar	RCV003113462.2, VCV002425095.2

No genotype data were submitted for this variant

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