A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2692462



Internal ID17849589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130010072..130014241hg38UCSC Ensembl
Innerchr3:129728915..129733084hg19UCSC Ensembl
Innerchr3:131211605..131215774hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg384170
hg194170
hg184170
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967116
Supporting Variants
SamplesHGDP01029
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2692462
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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