A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2092279



Internal ID17491929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:35859034..35862834hg38UCSC Ensembl
Innerchr17:34186038..34189838hg19UCSC Ensembl
Innerchr17:31210151..31213951hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg383801
hg193801
hg183801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960467
Supporting Variants
SamplesHGDP00998
Known GenesC17orf66
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2092279
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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