A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966849



Internal ID18602078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:74727090..74734343hg38UCSC Ensembl
Innerchr7:74141428..74148685hg19UCSC Ensembl
Innerchr7:73779364..73786621hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg387254
hg197258
hg187258
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2464449, nssv2464450, nssv2464447, nssv2464452, nssv2464444, nssv2464445, nssv2464443, nssv2464448, nssv2464451, nssv2464446
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGTF2I
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966849
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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