A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv982345



Internal ID18270854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:125236308..125239231hg38UCSC Ensembl
Innerchr9:127998587..128001510hg19UCSC Ensembl
Innerchr9:127038408..127041331hg18UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg382924
hg192924
hg182924
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2567332, nssv2567339, nssv2567333, nssv2567340, nssv2567337, nssv2567336, nssv2567335, nssv2567334, nssv2567338, nssv2567341
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHSPA5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv982345
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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