A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3989871



Internal ID19233191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:76492244..76495544hg38UCSC Ensembl
Outerchr18:74204200..74207500hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg383301
hg193301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1136256
Supporting Variants
SamplesKWS2
Known GenesFLJ44313, ZNF516
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3989871
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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