A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3954998



Internal ID18864123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:36743107..36750086hg38UCSC Ensembl
Outerchr18:34323070..34330049hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg386980
hg196980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1134710
Supporting Variants
SamplesKWS1
Known GenesFHOD3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3954998
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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