A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967094



Internal ID18255637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:179258679..179260878hg38UCSC Ensembl
Innerchr3:178976467..178978666hg19UCSC Ensembl
Innerchr3:180459161..180461360hg18UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg382200
hg192200
hg182200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2305137, nssv2305143, nssv2305136, nssv2305135, nssv2305139, nssv2305141, nssv2305140, nssv2305144, nssv2305142, nssv2305138
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesKCNMB3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967094
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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