A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118789



Internal ID18904114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:58044068..58044568hg38UCSC Ensembl
Outerchr18:55711300..55711800hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981101
SamplesKWS1
Known GenesNEDD4L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118789
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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