A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969397



Internal ID18604624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:48147782..48150218hg38UCSC Ensembl
Innerchr6:48115518..48117954hg19UCSC Ensembl
Innerchr6:48223477..48225913hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg382437
hg192437
hg182437
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2407791, nssv2407789, nssv2407785, nssv2407794, nssv2407790, nssv2407788, nssv2407792, nssv2407787, nssv2407793, nssv2407786
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv969397
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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