A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2214676



Internal ID17438818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:177214885..177221027hg38UCSC Ensembl
Innerchr2:178079613..178085755hg19UCSC Ensembl
Innerchr2:177787859..177794001hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg386143
hg196143
hg186143
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963751
Supporting Variants
SamplesHGDP00665
Known GenesHNRNPA3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2214676
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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