A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2199553



Internal ID17864666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:113494928..113507574hg38UCSC Ensembl
Innerchr2:114252505..114265151hg19UCSC Ensembl
Innerchr2:113968975..113981621hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3812647
hg1912647
hg1812647
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv979106
Supporting Variants
SamplesHGDP01284
Known GenesCBWD2, FOXD4L1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2199553
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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