A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2095570



Internal ID17766181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41226509..41238963hg38UCSC Ensembl
Innerchr17:39382761..39395215hg19UCSC Ensembl
Innerchr17:36636287..36648741hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3812455
hg1912455
hg1812455
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960486
Supporting Variants
SamplesHGDP00542
Known GenesKRTAP9-2, KRTAP9-3, KRTAP9-8
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)nssv2095570
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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