A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130512



Internal ID19264982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:90564604..90564925hg38UCSC Ensembl
Outerchr5:89860421..89860742hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3123n106
Supporting Variantsnssv3969777, nssv3965798
SamplesKWS2, KWS1
Known GenesGPR98
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130512
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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