A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1137610



Internal ID18921739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:12037591..12096291hg38UCSC Ensembl
Outerchr8:11895100..11953800hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3858701
hg1958701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3773n106
Supporting Variantsnssv3990113
SamplesKWS2
Known GenesDEFB130, LOC100133267, ZNF705D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1137610
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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