A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv1006303

Internal ID

18748834

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:100621212..100723634	hg38	UCSC Ensembl
Inner	chr3:100340056..100442478	hg19	UCSC Ensembl
Inner	chr3:101822746..101925168	hg18	UCSC Ensembl

Cytoband

3q12.2

Allele length

Assembly	Allele length
hg38	102423
hg19	102423
hg18	102423

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv3604320, nssv3604334, nssv3604333, nssv3735220, nssv3604336, nssv3604298, nssv3735223, nssv3604306, nssv3735217, nssv3604335, nssv3604332, nssv3604309, nssv3735215, nssv3604315, nssv3735227, nssv3604316, nssv3735226, nssv3735231, nssv3604328, nssv3604337, nssv3735214, nssv3604319, nssv3604326, nssv3735224, nssv3604321, nssv3604329, nssv3604305, nssv3604282, nssv3604303, nssv3604278, nssv3604330, nssv3604287, nssv3604310, nssv3735228, nssv3604293, nssv3604313, nssv3604283, nssv3735222, nssv3735209, nssv3604284, nssv3735218, nssv3604299, nssv3604301, nssv3735221, nssv3604331, nssv3604314, nssv3604280, nssv3604325, nssv3735210, nssv3604308, nssv3604297, nssv3735212, nssv3604312, nssv3604322, nssv3604295, nssv3735213, nssv3604296, nssv3735229, nssv3735225, nssv3604290, nssv3604289, nssv3604281, nssv3604285, nssv3604279, nssv3735230, nssv3604324, nssv3735232, nssv3604300, nssv3604292, nssv3735211, nssv3604311, nssv3735219, nssv3604304, nssv3604339, nssv3604294, nssv3735216, nssv3604323, nssv3604291, nssv3604307, nssv3604302, nssv3604318, nssv3604338, nssv3604317, nssv3604286, nssv3604288, nssv3604327

Samples

Known Genes

Method

SNP array

Analysis

Affymetrix SNP array copy number analysis

Platform

Affymetrix SNP Array 6.0

Comments

Reference

Coe_et_al_2014

Pubmed ID

Accession Number(s)

Frequency

Sample Size	29084
Observed Gain	86
Observed Loss	0
Observed Complex	0
Frequency	n/a