A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv972317



Internal ID18260847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:39228504..39268650hg38UCSC Ensembl
Innerchr9:39228501..39268647hg19UCSC Ensembl
Innerchr9:39218501..39258647hg18UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg3840147
hg1940147
hg1840147
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2531060, nssv2531056, nssv2531057, nssv2531061, nssv2531062, nssv2531058, nssv2531063, nssv2531059, nssv2531064, nssv2531055
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCNTNAP3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv972317
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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