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dbVar

Database of genomic structural variation

nsv6309326

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:1,766,779

Description:
See descriptions for individual calls in download files

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: 7703 SVs from 120 studies. See in: genome view

Remapped(Score: Good):6,329,312-8,096,090

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6309326	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	6,329,312	8,096,090
nsv6309326	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	6,438,478	8,248,686

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17970483	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001913769.8, VCV001409561.31
nssv18787079	duplication	Multiple	Multiple	TEMTAMY SYNDROME; TEMTYS; Temtamy syndrome; Temtamy syndrome	Uncertain significance	ClinVar	RCV003120743.7, VCV001409561.31

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17970483	Remapped	Good	NC_000012.12:g.(?_ 6329312)_(8096090_ ?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	6,329,312	8,096,090
nssv18787079	Remapped	Good	NC_000012.12:g.(?_ 6329312)_(8096090_ ?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	6,329,312	8,096,090
nssv17970483	Submitted genomic		NC_000012.11:g.(?_ 6438478)_(8248686_ ?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	6,438,478	8,248,686
nssv18787079	Submitted genomic		NC_000012.11:g.(?_ 6438478)_(8248686_ ?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	6,438,478	8,248,686

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
nssv17970483	GRCh37: NC_000012.11:g.(?_6438478)_(8248686_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV001913769.8, VCV001409561.31
nssv18787079	GRCh37: NC_000012.11:g.(?_6438478)_(8248686_?)dup	duplication	germline	TEMTAMY SYNDROME; TEMTYS; Temtamy syndrome; Temtamy syndrome	Uncertain significance	ClinVar	RCV003120743.7, VCV001409561.31

No genotype data were submitted for this variant

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