A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144106



Internal ID19265386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:61330173..61334673hg38UCSC Ensembl
Outerchr5:60626000..60630500hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg384501
hg194501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994829
SamplesKWS1
Known GenesZSWIM6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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