A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968272



Internal ID18603500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:173221311..173226454hg38UCSC Ensembl
Innerchr5:172648314..172653457hg19UCSC Ensembl
Innerchr5:172580920..172586063hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg385144
hg195144
hg185144
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2386236, nssv2386229, nssv2386227, nssv2386228, nssv2386233, nssv2386235, nssv2386234, nssv2386231, nssv2386232, nssv2386230
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)nsv968272
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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