A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3986376



Internal ID18863555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:99079374..99079437hg38UCSC Ensembl
Outerchr4:100000525..100000588hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1136894
Supporting Variants
SamplesKWS1
Known GenesADH5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3986376
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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