A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960483



Internal ID18595734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:38484811..38505412hg38UCSC Ensembl
Innerchr17:36641052..36661658hg19UCSC Ensembl
Innerchr17:33894578..33915184hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3820602
hg1920607
hg1820607
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2095022, nssv2095026, nssv2095021, nssv2095023, nssv2095027, nssv2095025, nssv2095029, nssv2095024, nssv2095030, nssv2095028
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesARHGAP23
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960483
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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