A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3969185



Internal ID18885535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179805800..179807200hg38UCSC Ensembl
Outerchr5:179232800..179234200hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381401
hg191401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1133621
Supporting Variants
SamplesKWS2
Known GenesMGAT4B, SQSTM1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3969185
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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