A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1134691



Internal ID18931203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:3997014..3997471hg38UCSC Ensembl
Outerchr18:3997014..3997471hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38458
hg19458
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972137, nssv3971163
SamplesKWS2, KWS1
Known GenesDLGAP1, DLGAP1-AS4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1134691
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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