A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981578



Internal ID18616775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:129055615..129056870hg38UCSC Ensembl
Innerchr7:128695669..128696924hg19UCSC Ensembl
Innerchr7:128482905..128484160hg18UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg381256
hg191256
hg181256
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2478178, nssv2478177, nssv2478179, nssv2478182, nssv2478183, nssv2478174, nssv2478181, nssv2478180, nssv2478176, nssv2478175
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTPI1P2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981578
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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