A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2669460



Internal ID17807840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:113481503..113494208hg38UCSC Ensembl
Innerchr2:114239080..114251785hg19UCSC Ensembl
Innerchr2:113955550..113968255hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3812706
hg1912706
hg1812706
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv961999
Supporting Variants
SamplesHGDP00778
Known GenesCBWD2
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2669460
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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