A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2220356



Internal ID17454303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:206111688..206119787hg38UCSC Ensembl
Innerchr2:206976412..206984511hg19UCSC Ensembl
Innerchr2:206684657..206692756hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg388100
hg198100
hg188100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979170
Supporting Variants
SamplesHGDP00778
Known GenesGCSHP3
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)nssv2220356
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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