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dbVar

Database of genomic structural variation

nsv3892646

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:17,863

Description:GRCh37/hg19 17q12(chr17:36891708-36909570)x3 AND See cases

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: 131 SVs from 28 studies. See in: genome view

Remapped(Score: Perfect):38,735,455-38,753,317

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3892646	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	38,735,455	38,753,317
nsv3892646	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187614.1	Chr17\|NT_1 87614.1	2,770,774	2,788,636
nsv3892646	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	36,891,708	36,909,570

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15141473	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000448289.3, VCV000394925.3	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15141473	Remapped	Perfect	NT_187614.1:g.(?_2 770774)_(2788636_? )dup	GRCh38.p12	Second Pass	NT_187614.1	Chr17\|NT_1 87614.1	2,770,774	2,788,636
nssv15141473	Remapped	Perfect	NC_000017.11:g.(?_ 38735455)_(3875331 7_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	38,735,455	38,753,317
nssv15141473	Submitted genomic		NC_000017.10:g.(?_ 36891708)_(3690957 0_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	36,891,708	36,909,570

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
nssv15141473	GRCh37: NC_000017.10:g.(?_36891708)_(36909570_?)dup	copy number gain	not provided	See cases	Uncertain significance	ClinVar	RCV000448289.3, VCV000394925.3	3

No genotype data were submitted for this variant

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