A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124921



Internal ID19259673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:82429881..82435081hg38UCSC Ensembl
Outerchr5:81725700..81730900hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg385201
hg195201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977727
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124921
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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