A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2096484



Internal ID17788338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41394752..41395514hg38UCSC Ensembl
Innerchr17:39551004..39551766hg19UCSC Ensembl
Innerchr17:36804530..36805292hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38763
hg19763
hg18763
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962322
Supporting Variants
SamplesHGDP00665
Known GenesKRT31
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)nssv2096484
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer