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dbVar

Database of genomic structural variation

nsv6300550

Organism: Homo sapiens

Study:nstd186 (NCBI Curated Common Structural Variants)
Variant Type:copy number variation
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:251,508

Description:nsv6141377 from Byrska-Bishop et. al 2021. For a full list of variants now included in nstd186, refer to the mapping file provided here.

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: 2040 SVs from 90 studies. See in: genome view

Remapped(Score: Perfect):188,786,386-189,037,893

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6300550	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	188,786,386	189,037,893
nsv6300550	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	189,707,540	189,959,047

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17671553	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17671553	Remapped	Perfect	NC_000004.12:g.188 786386_189037893de l	GRCh38.p12	First Pass	NC_000004.12	Chr4	188,786,386	189,037,893
nssv17671553	Submitted genomic		NC_000004.11:g.189 707540_189959047de l	GRCh37 (hg19)		NC_000004.11	Chr4	189,707,540	189,959,047

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv17671553	0.026	165	6372

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