A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979873



Internal ID18615074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:124150278..124155879hg38UCSC Ensembl
Innerchr3:123869125..123874726hg19UCSC Ensembl
Innerchr3:125351815..125357416hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg385602
hg195602
hg185602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2295245, nssv2295241, nssv2295242, nssv2295244, nssv2295237, nssv2295238, nssv2295236, nssv2295243, nssv2295240, nssv2295239
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKALRN
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979873
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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