A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960131



Internal ID18248698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:60236244..60249497hg38UCSC Ensembl
Innerchr17:58313605..58326858hg19UCSC Ensembl
Innerchr17:55668387..55681640hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3813254
hg1913254
hg1813254
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2104713, nssv2104710, nssv2104711, nssv2104708, nssv2104706, nssv2104709, nssv2104707, nssv2104705, nssv2104712, nssv2104714
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesUSP32
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960131
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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