A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981531



Internal ID18616728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75257668..75280645hg38UCSC Ensembl
Innerchr7:74673246..74695468hg19UCSC Ensembl
Innerchr7:74311182..74333404hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3822978
hg1922223
hg1822223
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2464192, nssv2717255, nssv2717260, nssv2464194, nssv2464193, nssv2464191, nssv2464190, nssv2717253, nssv2464196, nssv2464198, nssv2464195, nssv2717257, nssv2717252, nssv2717254, nssv2464189, nssv2717259, nssv2717256, nssv2717261, nssv2717258, nssv2464197
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGTF2IP1
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981531
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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