A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138595



Internal ID18906874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:2869789..2869841hg38UCSC Ensembl
Outerchr18:2869787..2869839hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3991185, nssv3955357
SamplesKWS1, KWS2
Known GenesEMILIN2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138595
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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