A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3982274



Internal ID18867149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:12038191..12115391hg38UCSC Ensembl
Outerchr8:11895700..11972900hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3877201
hg1977201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1145190
Supporting Variants
SamplesKWS1
Known GenesDEFB130, LOC100133267, ZNF705D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3982274
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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