A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970950



Internal ID18606172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:142928353..142929244hg38UCSC Ensembl
Innerchr7:142625448..142626339hg19UCSC Ensembl
Innerchr7:142335570..142336461hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38892
hg19892
hg18892
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2485074, nssv2485065, nssv2485073, nssv2485069, nssv2485072, nssv2485071, nssv2485068, nssv2485067, nssv2485066, nssv2485070
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTRPV5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970950
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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