A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064674



Internal ID19153893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32135553..32644190hg38UCSC Ensembl
Innerchr16:32146874..32655511hg19UCSC Ensembl
Innerchr16:32054375..32563012hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38508638
hg19508638
hg18508638
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2848n100
Supporting Variantsnssv3550289, nssv3550283, nssv3550288, nssv3550287, nssv3550286, nssv3716272, nssv3550284, nssv3550285
Samples
Known GenesHERC2P4, LOC390705, TP53TG3D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064674
Frequency
Sample Size11257
Observed Gain6
Observed Loss2
Observed Complex0
Frequencyn/a


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