A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060730



Internal ID19149949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32147274..32632041hg38UCSC Ensembl
Innerchr16:32158595..32643362hg19UCSC Ensembl
Innerchr16:32066096..32550863hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38484768
hg19484768
hg18484768
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2848n100
Supporting Variantsnssv3550337, nssv3550338, nssv3550336
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)nsv1060730
Frequency
Sample Size11257
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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