A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123173



Internal ID19266485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:37924674..37924728hg38UCSC Ensembl
Outerchr18:35504638..35504692hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972160
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123173
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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