A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2108633



Internal ID17802641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:67271675..67272589hg38UCSC Ensembl
Innerchr17:65267791..65268705hg19UCSC Ensembl
Innerchr17:62698253..62699167hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38915
hg19915
hg18915
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962362
Supporting Variants
SamplesHGDP00778
Known Genes
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)nssv2108633
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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