A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981582



Internal ID18616779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:133034606..133036106hg38UCSC Ensembl
Innerchr7:132719366..132720866hg19UCSC Ensembl
Innerchr7:132369906..132371406hg18UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg381501
hg191501
hg181501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2478637, nssv2478635, nssv2478643, nssv2478640, nssv2478639, nssv2478638, nssv2478644, nssv2478641, nssv2478636, nssv2478642
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCHCHD3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981582
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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