A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967748



Internal ID18256290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:56934385..56936350hg38UCSC Ensembl
Innerchr4:57800551..57802516hg19UCSC Ensembl
Innerchr4:57495308..57497273hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381966
hg191966
hg181966
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2319322, nssv2319325, nssv2319329, nssv2319324, nssv2319323, nssv2319326, nssv2319328, nssv2319327, nssv2319331, nssv2319330
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesREST
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967748
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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