A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123188



Internal ID19268976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:65826554..65826617hg38UCSC Ensembl
Outerchr18:63493790..63493853hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972182
SamplesKWS2
Known GenesCDH7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123188
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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