A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3981686



Internal ID18861228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:91379383..91381483hg38UCSC Ensembl
Outerchr5:90675200..90677300hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg382101
hg192101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1145067
Supporting Variants
SamplesKWS1
Known GenesARRDC3, ARRDC3-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3981686
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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