A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978983



Internal ID18267500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:23397543..23400009hg38UCSC Ensembl
Innerchr2:23620414..23622880hg19UCSC Ensembl
Innerchr2:23473919..23476385hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg382467
hg192467
hg182467
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2166347, nssv2166350, nssv2166345, nssv2166352, nssv2166354, nssv2166351, nssv2166353, nssv2166348, nssv2166346, nssv2166349
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKLHL29
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978983
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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