A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969396



Internal ID18604623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:44248884..44253443hg38UCSC Ensembl
Innerchr6:44216621..44221180hg19UCSC Ensembl
Innerchr6:44324599..44329158hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg384560
hg194560
hg184560
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2408382, nssv2408380, nssv2408384, nssv2408385, nssv2408383, nssv2408381, nssv2408386, nssv2408379, nssv2408377, nssv2408378
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHSP90AB1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv969396
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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