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dbVar

Database of genomic structural variation

nsv7094905

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:217,791

Description:
NC_000017.10:g.(?_505015)_(722805_?)dup 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: 1921 SVs from 85 studies. See in: genome view

Remapped(Score: Perfect):601,775-819,565

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7094905	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	601,775	819,565
nsv7094905	Remapped	Pass	GRCh38.p12	PATCHES	Second Pass	NW_017363817.1	Chr17\|NW_0 17363817.1	161,252	281,919
nsv7094905	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	505,015	722,805

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18789452	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV003111498.2, VCV002426762.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18789452	Remapped	Pass	NW_017363817.1:g.( ?_161252)_(281919_ ?)dup	GRCh38.p12	Second Pass	NW_017363817.1	Chr17\|NW_0 17363817.1	161,252	281,919
nssv18789452	Remapped	Perfect	NC_000017.11:g.(?_ 601775)_(819565_?) dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	601,775	819,565
nssv18789452	Submitted genomic		NC_000017.10:g.(?_ 505015)_(722805_?) dup	GRCh37 (hg19)		NC_000017.10	Chr17	505,015	722,805

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
nssv18789452	GRCh37: NC_000017.10:g.(?_505015)_(722805_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV003111498.2, VCV002426762.2

No genotype data were submitted for this variant

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