A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2187865



Internal ID17767257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94892468..94954664hg38UCSC Ensembl
Innerchr2:95558213..95620409hg19UCSC Ensembl
Innerchr2:94921940..94984136hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3862197
hg1962197
hg1862197
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963660
Supporting Variants
SamplesHGDP00542
Known GenesLOC442028
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)nssv2187865
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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