A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2671685



Internal ID17814809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131603226..131605241hg38UCSC Ensembl
Innerchr2:132360799..132362814hg19UCSC Ensembl
Innerchr2:132077269..132079284hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg382016
hg192016
hg182016
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962008
Supporting Variants
SamplesHGDP00927
Known GenesPOTEKP
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2671685
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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