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dbVar

Database of genomic structural variation

nsv3892633

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:20,385

Description:GRCh37/hg19 17q12(chr17:36891708-36912092)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: 141 SVs from 28 studies. See in: genome view

Remapped(Score: Perfect):38,735,455-38,755,839

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3892633	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	38,735,455	38,755,839
nsv3892633	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187614.1	Chr17\|NT_1 87614.1	2,770,774	2,791,158
nsv3892633	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	36,891,708	36,912,092

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15140101	copy number gain	Multiple	Multiple	See cases	Likely benign	ClinVar	RCV000448503.3, VCV000394258.3	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15140101	Remapped	Perfect	NT_187614.1:g.(?_2 770774)_(2791158_? )dup	GRCh38.p12	Second Pass	NT_187614.1	Chr17\|NT_1 87614.1	2,770,774	2,791,158
nssv15140101	Remapped	Perfect	NC_000017.11:g.(?_ 38735455)_(3875583 9_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	38,735,455	38,755,839
nssv15140101	Submitted genomic		NC_000017.10:g.(?_ 36891708)_(3691209 2_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	36,891,708	36,912,092

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
nssv15140101	GRCh37: NC_000017.10:g.(?_36891708)_(36912092_?)dup	copy number gain	not provided	See cases	Likely benign	ClinVar	RCV000448503.3, VCV000394258.3	3

No genotype data were submitted for this variant

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