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dbVar

Database of genomic structural variation

nsv4457542

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:231,228

Description:GRCh37/hg19 17q12(chr17:34151183-34477480)x3 AND not provided

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: 1810 SVs from 97 studies. See in: genome view

Remapped(Score: Pass):35,919,249-36,150,098

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4457542	Remapped	Pass	GRCh38.p12	Primary Assembly	Second Pass	NC_000017.11	Chr17	35,919,249	36,150,098
nsv4457542	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_1	First Pass	NT_187614.1	Chr17\|NT_1 87614.1	153,781	385,008
nsv4457542	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	34,151,183	34,477,480

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15774841	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV000846470.2, VCV000685762.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15774841	Remapped	Pass	NT_187614.1:g.(?_1 53781)_(385008_?)d up	GRCh38.p12	First Pass	NT_187614.1	Chr17\|NT_1 87614.1	153,781	385,008
nssv15774841	Remapped	Pass	NC_000017.11:g.(?_ 35919249)_(3615009 8_?)dup	GRCh38.p12	Second Pass	NC_000017.11	Chr17	35,919,249	36,150,098
nssv15774841	Submitted genomic		NC_000017.10:g.(?_ 34151183)_(3447748 0_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	34,151,183	34,477,480

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
nssv15774841	GRCh37: NC_000017.10:g.(?_34151183)_(34477480_?)dup	copy number gain	unknown	not provided	Uncertain significance	ClinVar	RCV000846470.2, VCV000685762.2	3

No genotype data were submitted for this variant

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