A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2191138



Internal ID17772715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:104769562..104772634hg38UCSC Ensembl
Innerchr2:105386020..105389092hg19UCSC Ensembl
Innerchr2:104752452..104755524hg18UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg383073
hg193073
hg183073
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961470
Supporting Variants
SamplesHGDP00542
Known Genes
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)nssv2191138
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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