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dbVar

Database of genomic structural variation

nsv6290347

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:942,118

Description:GRCh37/hg19 16p11.2(chr16:29808153-30750270)x3 AND Chromosome 16p11.2 duplication syndrome

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: 2848 SVs from 96 studies. See in: genome view

Remapped(Score: Perfect):29,796,832-30,738,949

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6290347	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	29,796,832	30,738,949
nsv6290347	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	29,808,153	30,750,270

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17955864	copy number gain	Multiple	Multiple	CHROMOSOME 16p11.2 DUPLICATION SYNDROME; Chromosome 16p11.2 duplication syndrome	Pathogenic	ClinVar	RCV001801218.1, VCV001330201.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17955864	Remapped	Perfect	NC_000016.10:g.(?_ 29796832)_(3073894 9_?)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	29,796,832	30,738,949
nssv17955864	Submitted genomic		NC_000016.9:g.(?_2 9808153)_(30750270 _?)dup	GRCh37 (hg19)		NC_000016.9	Chr16	29,808,153	30,750,270

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
nssv17955864	GRCh37: NC_000016.9:g.(?_29808153)_(30750270_?)dup	copy number gain	paternal	CHROMOSOME 16p11.2 DUPLICATION SYNDROME; Chromosome 16p11.2 duplication syndrome	Pathogenic	ClinVar	RCV001801218.1, VCV001330201.1	3

No genotype data were submitted for this variant

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