A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112195



Internal ID19249645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:44183974..44196975hg38UCSC Ensembl
Outerchr18:41763939..41776940hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3813002
hg1913002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1589n106
Supporting Variantsnssv3965893
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112195
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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