A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994963



Internal ID18857985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:116873661..116874861hg38UCSC Ensembl
Outerchr8:117885900..117887100hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1144231
Supporting Variants
SamplesKWS1
Known GenesMIR3610, RAD21, RAD21-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994963
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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