A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143312



Internal ID19267352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:76885402..76885502hg38UCSC Ensembl
Outerchr5:76181227..76181327hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980496
SamplesKWS1
Known GenesS100Z
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143312
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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