A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970972



Internal ID18259508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152264470..152266155hg38UCSC Ensembl
Innerchr7:151961555..151963240hg19UCSC Ensembl
Innerchr7:151592488..151594173hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg381686
hg191686
hg181686
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2488326, nssv2488331, nssv2488327, nssv2488334, nssv2488325, nssv2488329, nssv2488333, nssv2488330, nssv2488332, nssv2488328
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKMT2C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970972
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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