A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2281128



Internal ID17404192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46023399..46026438hg38UCSC Ensembl
Innerchr3:46064891..46067930hg19UCSC Ensembl
Innerchr3:46039895..46042934hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg383040
hg193040
hg183040
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965163
Supporting Variants
SamplesHGDP00521
Known GenesXCR1
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)nssv2281128
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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