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dbVar

Database of genomic structural variation

nsv6309886

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:2,820,991

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: 9424 SVs from 111 studies. See in: genome view

Remapped(Score: Perfect):8,735,740-11,556,730

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6309886	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	8,735,740	11,556,730
nsv6309886	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	8,829,597	11,650,586

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17973107	duplication	Multiple	Multiple	BARE LYMPHOCYTE SYNDROME, TYPE II; Bare lymphocyte syndrome 2; Bare lymphocyte syndrome 2; Immunodeficiency by defective expression of HLA class 2	Uncertain significance	ClinVar	RCV002000309.3, VCV001480512.3
nssv18787107	duplication	Multiple	Multiple	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C; CMT1C; Charcot Marie Tooth disease type 1C; Charcot-Marie-Tooth disease, type 1C	Uncertain significance	ClinVar	RCV003120793.2, VCV001480512.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17973107	Remapped	Perfect	NC_000016.10:g.(?_ 8735740)_(11556730 _?)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	8,735,740	11,556,730
nssv18787107	Remapped	Perfect	NC_000016.10:g.(?_ 8735740)_(11556730 _?)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	8,735,740	11,556,730
nssv17973107	Submitted genomic		NC_000016.9:g.(?_8 829597)_(11650586_ ?)dup	GRCh37 (hg19)		NC_000016.9	Chr16	8,829,597	11,650,586
nssv18787107	Submitted genomic		NC_000016.9:g.(?_8 829597)_(11650586_ ?)dup	GRCh37 (hg19)		NC_000016.9	Chr16	8,829,597	11,650,586

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
nssv17973107	GRCh37: NC_000016.9:g.(?_8829597)_(11650586_?)dup	duplication	germline	BARE LYMPHOCYTE SYNDROME, TYPE II; Bare lymphocyte syndrome 2; Bare lymphocyte syndrome 2; Immunodeficiency by defective expression of HLA class 2	Uncertain significance	ClinVar	RCV002000309.3, VCV001480512.3
nssv18787107	GRCh37: NC_000016.9:g.(?_8829597)_(11650586_?)dup	duplication	germline	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C; CMT1C; Charcot Marie Tooth disease type 1C; Charcot-Marie-Tooth disease, type 1C	Uncertain significance	ClinVar	RCV003120793.2, VCV001480512.3

No genotype data were submitted for this variant

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