A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981532



Internal ID18616729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75280645..75287977hg38UCSC Ensembl
Innerchr7:74695468..74702788hg19UCSC Ensembl
Innerchr7:74333404..74340724hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg387333
hg197321
hg187321
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2717288, nssv2717293, nssv2717294, nssv2717291, nssv2717290, nssv2717286, nssv2717292, nssv2717285, nssv2717289, nssv2717287
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGTF2IP1, PMS2P5
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981532
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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