A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144125



Internal ID19276767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:178113499..178113899hg38UCSC Ensembl
Outerchr5:177540500..177540900hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994848
SamplesKWS1
Known GenesN4BP3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144125
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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