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

dbVar

Database of genomic structural variation

nsv6137852

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:123,531

Description:GRCh38/hg38 16p13.3(chr16:3727580-3851110)x1 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: 296 SVs from 39 studies. See in: genome view

Submitted genomic3,727,580-3,851,110

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv6137852	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	3,727,580	3,851,110
nsv6137852	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	3,777,581	3,901,111

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17683605	copy number loss	Multiple	Multiple	Rubinstein-Taybi Syndrome; Rubinstein-Taybi syndrome; Rubinstein-Taybi syndrome	Pathogenic	ClinVar	RCV001731176.3, VCV001300180.3	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv17683605	Submitted genomic		NC_000016.10:g.(37 27580_?)_(?_385111 0)del	GRCh38 (hg38)		NC_000016.10	Chr16	3,727,580	3,851,110
nssv17683605	Remapped	Perfect	NC_000016.9:g.(377 7581_?)_(?_3901111 )del	GRCh37.p13	First Pass	NC_000016.9	Chr16	3,777,581	3,901,111

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
nssv17683605	GRCh38: NC_000016.10:g.(3727580_?)_(?_3851110)del	copy number loss	de novo	Rubinstein-Taybi Syndrome; Rubinstein-Taybi syndrome; Rubinstein-Taybi syndrome	Pathogenic	ClinVar	RCV001731176.3, VCV001300180.3	1

No genotype data were submitted for this variant

You are here: NCBI