A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2194111



Internal ID17786174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:100080920..100105715hg38UCSC Ensembl
Innerchr2:100697382..100722177hg19UCSC Ensembl
Innerchr2:100063814..100088609hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3824796
hg1924796
hg1824796
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv963672
Supporting Variants
SamplesHGDP00665
Known GenesAFF3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2194111
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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