A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969048



Internal ID18604276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50635319..50638324hg38UCSC Ensembl
Innerchr5:49931153..49934158hg19UCSC Ensembl
Innerchr5:49966910..49969915hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg383006
hg193006
hg183006
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2697159, nssv2697162, nssv2697155, nssv2697161, nssv2697158, nssv2697153, nssv2697154, nssv2697160, nssv2697156, nssv2697157
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv969048
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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