A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056532



Internal ID19145751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32047162..33970586hg38UCSC Ensembl
Innerchr16:32058483..33773053hg19UCSC Ensembl
Innerchr16:31965984..33680554hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381923425
hg191714571
hg181714571
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2844n100
Supporting Variantsnssv3716238, nssv3716231, nssv3549291, nssv3549294, nssv3716233, nssv3549315, nssv3549292, nssv3549311, nssv3549303, nssv3549313, nssv3549286, nssv3549299, nssv3549298, nssv3549312, nssv3549305, nssv3716235, nssv3549301, nssv3716239, nssv3549293, nssv3549289, nssv3549304, nssv3716230, nssv3549287, nssv3549300, nssv3716237, nssv3549288, nssv3549306, nssv3549314, nssv3549309, nssv3549302, nssv3716232, nssv3549297, nssv3716234, nssv3549307, nssv3716236, nssv3549308, nssv3549310, nssv3549296, nssv3549290, nssv3549295
Samples
Known GenesHERC2P4, LOC390705, RNU6-76P, SLC6A10P, TP53TG3, TP53TG3B, TP53TG3C, TP53TG3D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056532
Frequency
Sample Size11257
Observed Gain37
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer