A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050117



Internal ID18792648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:51750980..52069788hg38UCSC Ensembl
Innerchr13:52325116..52643924hg19UCSC Ensembl
Innerchr13:51223117..51541925hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38318809
hg19318809
hg18318809
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1652n100
Supporting Variantsnssv3523464, nssv3523463
Samples
Known GenesALG11, ATP7B, CCDC70, DHRS12, LINC00282, NEK5, UTP14C, WDFY2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050117
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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