A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2668643



Internal ID17750643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94929316..94931669hg38UCSC Ensembl
Innerchr2:95595061..95597414hg19UCSC Ensembl
Innerchr2:94958788..94961141hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg382354
hg192354
hg182354
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961986
Supporting Variants
SamplesHGDP00521
Known GenesLOC442028
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2668643
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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