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dbVar

Database of genomic structural variation

nsv7148212

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:40,746

Description:GRCh38/hg38 16p13.3(chr16:3818098-3858843)x1 AND Rubinstein-Taybi syndrome due to CREBBP mutations
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: 146 SVs from 33 studies. See in: genome view

Submitted genomic3,818,098-3,858,843

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7148212	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	3,818,098	3,858,843
nsv7148212	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	3,868,099	3,908,844

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18841845	copy number loss	Multiple	Multiple	RUBINSTEIN-TAYBI SYNDROME 1; RSTS1; Rubinstein-Taybi Syndrome; Rubinstein-Taybi syndrome; Rubinstein-Taybi syndrome 1; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV003327624.1, VCV002579185.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18841845	Submitted genomic		NC_000016.10:g.381 8098_3858843del	GRCh38 (hg38)		NC_000016.10	Chr16	3,818,098	3,858,843
nssv18841845	Remapped	Perfect	NC_000016.9:g.3868 099_3908844del	GRCh37.p13	First Pass	NC_000016.9	Chr16	3,868,099	3,908,844

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
nssv18841845	GRCh38: NC_000016.10:g.3818098_3858843del	copy number loss	de novo	RUBINSTEIN-TAYBI SYNDROME 1; RSTS1; Rubinstein-Taybi Syndrome; Rubinstein-Taybi syndrome; Rubinstein-Taybi syndrome 1; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV003327624.1, VCV002579185.1	1

No genotype data were submitted for this variant

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