A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960489



Internal ID18595740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41438027..41439835hg38UCSC Ensembl
Innerchr17:39594279..39596087hg19UCSC Ensembl
Innerchr17:36847805..36849613hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg381809
hg191809
hg181809
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2094808, nssv2094805, nssv2094806, nssv2094807, nssv2094809, nssv2094802, nssv2094801, nssv2094804, nssv2094803, nssv2094810
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKRT38
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960489
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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