A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970143



Internal ID18605367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:73288883..73292094hg38UCSC Ensembl
Innerchr6:73998606..74001817hg19UCSC Ensembl
Innerchr6:74055327..74058538hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg383212
hg193212
hg183212
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2413319, nssv2413328, nssv2413324, nssv2413321, nssv2413320, nssv2413327, nssv2413323, nssv2413326, nssv2413325, nssv2413322
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesC6orf147, KHDC1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970143
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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