A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119178



Internal ID19281478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:54101640..54102340hg38UCSC Ensembl
Outerchr8:55014200..55014900hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981984
SamplesKWS1
Known GenesLYPLA1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119178
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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