A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981204



Internal ID18269717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:163572756..163573900hg38UCSC Ensembl
Innerchr6:163993788..163994932hg19UCSC Ensembl
Innerchr6:163913778..163914922hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg381145
hg191145
hg181145
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2430941, nssv2430947, nssv2430945, nssv2430942, nssv2430948, nssv2430944, nssv2430946, nssv2430943, nssv2430949, nssv2430940
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesQKI
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981204
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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