A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2213921



Internal ID17834739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:182763285..182767947hg38UCSC Ensembl
Innerchr2:183628012..183632674hg19UCSC Ensembl
Innerchr2:183336257..183340919hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg384663
hg194663
hg184663
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979155
Supporting Variants
SamplesHGDP00998
Known GenesDNAJC10
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)nssv2213921
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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