A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970536



Internal ID18605758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75280645..75298435hg38UCSC Ensembl
Innerchr7:74695468..74715393hg19UCSC Ensembl
Innerchr7:74333404..74353329hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3817791
hg1919926
hg1819926
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2464266, nssv2464264, nssv2464268, nssv2464263, nssv2464261, nssv2464260, nssv2464265, nssv2464259, nssv2464267, nssv2464262
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGTF2IP1, PMS2P5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970536
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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