A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112865



Internal ID19250318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1482285..1482885hg38UCSC Ensembl
Outerchr5:1482400..1483000hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981667, nssv3969537
SamplesKWS2, KWS1
Known GenesLPCAT1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112865
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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