A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2173236



Internal ID17882314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:63750093..63752582hg38UCSC Ensembl
Innerchr2:63977227..63979716hg19UCSC Ensembl
Innerchr2:63830731..63833220hg18UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg382490
hg192490
hg182490
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961782
Supporting Variants
SamplesHGDP01307
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)nssv2173236
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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