A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946037



Internal ID18246201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:84498250..84498750hg38UCSC Ensembl
Innerchr1:84963933..84964433hg19UCSC Ensembl
Innerchr1:84736521..84737021hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1773720, nssv1773712, nssv1773713, nssv1773721, nssv1773715, nssv1773718, nssv1773719, nssv1773716, nssv1773714, nssv1773717
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesGNG5, RPF1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946037
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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