A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966746



Internal ID18255290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:2741911..2757987hg38UCSC Ensembl
Innerchr7:2781545..2797621hg19UCSC Ensembl
Innerchr7:2748071..2764147hg18UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg3816077
hg1916077
hg1816077
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2434321, nssv2434317, nssv2434314, nssv2434320, nssv2434316, nssv2434313, nssv2434319, nssv2434312, nssv2434318, nssv2434315
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGNA12
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966746
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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