Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv4664969

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:12,351

Description:nsv4588758 from DECIPHER Consensus CNVs. 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: 138 SVs from 36 studies. See in: genome view

Remapped(Score: Perfect):49,684,715-49,697,065

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4664969	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	49,684,715	49,697,065
nsv4664969	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	49,722,148	49,734,498

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16185247	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16185247	Remapped	Perfect	NC_000003.12:g.(?_ 49684715)_(4969706 5_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	49,684,715	49,697,065
nssv16185247	Submitted genomic		NC_000003.11:g.(?_ 49722148)_(4973449 8_?)dup	GRCh37 (hg19)		NC_000003.11	Chr3	49,722,148	49,734,498

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)
nssv16185247	0.013	11	845

You are here: NCBI