A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117823



Internal ID18937812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:38193619..38193670hg38UCSC Ensembl
Outerchr8:38051137..38051188hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3957980
SamplesKWS1
Known GenesBAG4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117823
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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