A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062550



Internal ID19151769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32135553..32619935hg38UCSC Ensembl
Innerchr16:32146874..32631256hg19UCSC Ensembl
Innerchr16:32054375..32538757hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38484383
hg19484383
hg18484383
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2850n100
Supporting Variantsnssv3550281, nssv3716271, nssv3550280
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)nsv1062550
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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