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dbVar

Database of genomic structural variation

nsv4871538

Organism: Homo sapiens

Study:nstd200 (Abel et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:1,968

Publication(s):Abel et al. 2020

Links to Other Resources

Overlapping Genes

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: 28 SVs from 14 studies. See in: genome view

Remapped(Score: Perfect):69,930-71,900

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4871538	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_3	First Pass	NT_187682.1	Chr22\|NT_1 87682.1	69,932 (-2, +55)	71,899 (-106, +1)
nsv4871538	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	42,543,593 (-2, +55)	42,545,560 (-106, +1)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16380290	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16380290	Remapped	Perfect	NT_187682.1:g.(699 30_69987)_(71793_7 1900)del	GRCh38.p12	First Pass	NT_187682.1	Chr22\|NT_1 87682.1	69,932 (-2, +55)	71,899 (-106, +1)
nssv16380290	Submitted genomic		NC_000022.10:g.(42 543591_42543648)_( 42545454_42545561) del	GRCh37 (hg19)		NC_000022.10	Chr22	42,543,593 (-2, +55)	42,545,560 (-106, +1)

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)
nssv16380290	<0.001	1	16834

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