A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2102895



Internal ID17729774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:56572315..56573733hg38UCSC Ensembl
Innerchr17:54649676..54651094hg19UCSC Ensembl
Innerchr17:52004675..52006093hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg381419
hg191419
hg181419
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960508
Supporting Variants
SamplesHGDP00456
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)nssv2102895
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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