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dbVar

Database of genomic structural variation

nsv7098765

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:93,363

Description:Single allele 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: 261 SVs from 41 studies. See in: genome view

Remapped(Score: Perfect):3,717,419-3,810,781

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7098765	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	3,717,419	3,810,781
nsv7098765	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	3,767,420	3,860,782

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18792646	deletion	Multiple	Multiple	RUBINSTEIN-TAYBI SYNDROME 1; RSTS1; Rubinstein-Taybi Syndrome; Rubinstein-Taybi syndrome; Rubinstein-Taybi syndrome 1; See individual phenotypes in OMIM allelic variants	Likely pathogenic	ClinVar	RCV003154620.1, VCV002445209.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18792646	Remapped	Perfect	NC_000016.10:g.(?_ 3717419)_(3810781_ ?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	3,717,419	3,810,781
nssv18792646	Submitted genomic		NC_000016.9:g.(?_3 767420)_(3860782_? )del	GRCh37 (hg19)		NC_000016.9	Chr16	3,767,420	3,860,782

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
nssv18792646	GRCh37: NC_000016.9:g.(?_3767420)_(3860782_?)del	deletion	de novo	RUBINSTEIN-TAYBI SYNDROME 1; RSTS1; Rubinstein-Taybi Syndrome; Rubinstein-Taybi syndrome; Rubinstein-Taybi syndrome 1; See individual phenotypes in OMIM allelic variants	Likely pathogenic	ClinVar	RCV003154620.1, VCV002445209.1

No genotype data were submitted for this variant

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