A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2095877



Internal ID17770671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41364797..41365845hg38UCSC Ensembl
Innerchr17:39521049..39522097hg19UCSC Ensembl
Innerchr17:36774575..36775623hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg381049
hg191049
hg181049
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960488
Supporting Variants
SamplesHGDP00542
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)nssv2095877
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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