A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1137379



Internal ID18922520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:78687702..78687772hg38UCSC Ensembl
Outerchr8:79599937..79600007hg19UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3850n106
Supporting Variantsnssv3976075
SamplesKWS2
Known GenesZC2HC1A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1137379
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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