A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978393



Internal ID18613598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:20938615..20948489hg38UCSC Ensembl
Innerchr17:20841928..20851802hg19UCSC Ensembl
Innerchr17:20782520..20792394hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg389875
hg199875
hg189875
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2086425, nssv2086423, nssv2086426, nssv2086424, nssv2086422, nssv2086428, nssv2086427, nssv2086431, nssv2086430, nssv2086429
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978393
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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