A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975794



Internal ID18264315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:29412918..29420458hg38UCSC Ensembl
Innerchr10:29701847..29709387hg19UCSC Ensembl
Innerchr10:29741853..29749393hg18UCSC Ensembl
Cytoband10p11.23
Allele length
AssemblyAllele length
hg387541
hg197541
hg187541
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2763111, nssv2760989, nssv2766000, nssv2759856, nssv2756955, nssv2759564, nssv2757384, nssv2760796, nssv2762791
SamplesHGDP00927, HGDP00778, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPTCHD3P1
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975794
Frequency
Sample Size10
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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