A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3974637



Internal ID19247004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:138117852..138117950hg38UCSC Ensembl
Outerchr5:137453541..137453639hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1114734
Supporting Variants
SamplesKWS2
Known GenesNME5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3974637
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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