A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2281977



Internal ID17863658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:49774559..49780082hg38UCSC Ensembl
Innerchr3:49811992..49817515hg19UCSC Ensembl
Innerchr3:49786996..49792519hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg385524
hg195524
hg185524
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965165
Supporting Variants
SamplesHGDP01284
Known GenesIP6K1
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)nssv2281977
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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