A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992028



Internal ID19229862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:37581184..37581260hg38UCSC Ensembl
Outerchr5:37581286..37581362hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1140533
Supporting Variants
SamplesKWS2
Known GenesWDR70
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992028
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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