A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3766188



Internal ID19308396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58134287..58134771hg38UCSC Ensembl
chr18:55801519..55802003hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38485
hg19485
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1071466
Supporting Variants
SamplesKWP1
Known GenesNEDD4L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3766188
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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