A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2095921



Internal ID17886854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41369437..41370086hg38UCSC Ensembl
Innerchr17:39525689..39526338hg19UCSC Ensembl
Innerchr17:36779215..36779864hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38650
hg19650
hg18650
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960103
Supporting Variants
SamplesHGDP01307
Known GenesKRT33B
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)nssv2095921
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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