A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2096578



Internal ID17734338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41396830..41397782hg38UCSC Ensembl
Innerchr17:39553082..39554034hg19UCSC Ensembl
Innerchr17:36806608..36807560hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38953
hg19953
hg18953
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962323
Supporting Variants
SamplesHGDP00456
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)nssv2096578
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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