A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2281672



Internal ID17730822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52256152..52257478hg38UCSC Ensembl
Innerchr3:52290168..52291494hg19UCSC Ensembl
Innerchr3:52265208..52266534hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg381327
hg191327
hg181327
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963320
Supporting Variants
SamplesHGDP00456
Known GenesWDR82
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)nssv2281672
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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