A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970532



Internal ID18259068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:74746310..74870875hg38UCSC Ensembl
Innerchr7:74160649..74286969hg19UCSC Ensembl
Innerchr7:73798585..73924905hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38124566
hg19126321
hg18126321
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2462251, nssv2462253, nssv2462244, nssv2462247, nssv2462252, nssv2462249, nssv2462245, nssv2462246, nssv2462250, nssv2462248
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGTF2I, GTF2IRD2, NCF1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970532
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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