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dbVar

Database of genomic structural variation

nsv4417007

Organism: Homo sapiens

Study:nstd174 (DGV Gold Standard)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37 (hg19)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:2,372

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: 452 SVs from 47 studies. See in: genome view

Remapped(Score: Perfect):46,188,898-46,191,269

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv4417007	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	46,188,898	46,189,807	46,191,091	46,191,269
nsv4417007	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187626.1	Chr21\|NT_1 87626.1	50,268	51,177	52,461	52,639
nsv4417007	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	47,608,812	47,609,721	47,611,005	47,611,183

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv15731066	copy number loss	Multiple	Multiple

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15731066	Remapped	Perfect	NT_187626.1:g.(502 68_51177)_(52461_5 2639)del	GRCh38.p12	Second Pass	NT_187626.1	Chr21\|NT_1 87626.1	50,268	51,177	52,461	52,639
nssv15731066	Remapped	Perfect	NC_000021.9:g.(461 88898_46189807)_(4 6191091_46191269)d el	GRCh38.p12	First Pass	NC_000021.9	Chr21	46,188,898	46,189,807	46,191,091	46,191,269
nssv15731066	Submitted genomic		NC_000021.8:g.(476 08812_47609721)_(4 7611005_47611183)d el	GRCh37 (hg19)		NC_000021.8	Chr21	47,608,812	47,609,721	47,611,005	47,611,183

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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