A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119172



Internal ID18920016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:23457387..23457687hg38UCSC Ensembl
Outerchr8:23314900..23315200hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981978
SamplesKWS1
Known GenesENTPD4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119172
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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