A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964965



Internal ID18600200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:154729260..154732695hg38UCSC Ensembl
Innerchr5:154108820..154112255hg19UCSC Ensembl
Innerchr5:154089013..154092448hg18UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg383436
hg193436
hg183436
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2384130, nssv2384133, nssv2384135, nssv2384128, nssv2384131, nssv2384129, nssv2384134, nssv2384127, nssv2384132, nssv2384136
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLARP1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964965
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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