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dbVar

Database of genomic structural variation

nsv6312142

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:1,058,699

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: 2445 SVs from 91 studies. See in: genome view

Remapped(Score: Perfect):136,822,621-137,881,319

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6312142	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	136,822,621	137,881,319
nsv6312142	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	137,143,759	138,202,456

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17973189	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV002004826.3, VCV001450358.3
nssv17973386	deletion	Multiple	Multiple	Disseminated atypical mycobacterial infection	Pathogenic	ClinVar	RCV002014736.3, VCV001450358.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17973189	Remapped	Perfect	NC_000006.12:g.(?_ 136822621)_(137881 319_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	136,822,621	137,881,319
nssv17973386	Remapped	Perfect	NC_000006.12:g.(?_ 136822621)_(137881 319_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	136,822,621	137,881,319
nssv17973189	Submitted genomic		NC_000006.11:g.(?_ 137143759)_(138202 456_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	137,143,759	138,202,456
nssv17973386	Submitted genomic		NC_000006.11:g.(?_ 137143759)_(138202 456_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	137,143,759	138,202,456

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
nssv17973189	GRCh37: NC_000006.11:g.(?_137143759)_(138202456_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV002004826.3, VCV001450358.3
nssv17973386	GRCh37: NC_000006.11:g.(?_137143759)_(138202456_?)del	deletion	germline	Disseminated atypical mycobacterial infection	Pathogenic	ClinVar	RCV002014736.3, VCV001450358.3

No genotype data were submitted for this variant

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