A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973592



Internal ID18608807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:40250245..40251528hg38UCSC Ensembl
Innerchr9:42395263..42396546hg19UCSC Ensembl
Innerchr9:42385259..42386542hg18UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg381284
hg191284
hg181284
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2728363, nssv2728368, nssv2728401, nssv2728394, nssv2728367, nssv2728366, nssv2728361, nssv2728399, nssv2728398, nssv2728370, nssv2728396, nssv2728364, nssv2728397, nssv2728400, nssv2728403, nssv2728402, nssv2728395, nssv2728362, nssv2728369, nssv2728365
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANKRD20A2, ANKRD20A3
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973592
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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