A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2668252



Internal ID17840860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:111806185..111816442hg38UCSC Ensembl
Innerchr2:112563762..112574019hg19UCSC Ensembl
Innerchr2:112280233..112290490hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3810258
hg1910258
hg1810258
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961995
Supporting Variants
SamplesHGDP00998
Known GenesANAPC1
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2668252
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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