A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978452



Internal ID18613657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:63609875..63611159hg38UCSC Ensembl
Innerchr17:61687235..61688519hg19UCSC Ensembl
Innerchr17:59040967..59042251hg18UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg381285
hg191285
hg181285
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2107498, nssv2107496, nssv2107497, nssv2107495, nssv2107494, nssv2107503, nssv2107500, nssv2107502, nssv2107501, nssv2107499
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)nsv978452
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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