A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115075



Internal ID18933357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:19484171..19484271hg38UCSC Ensembl
Outerchr8:19341682..19341782hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3975380
SamplesKWS2
Known GenesCSGALNACT1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115075
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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