A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123231



Internal ID18913755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:18753075..18753152hg38UCSC Ensembl
Outerchr19:18863885..18863962hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972232
SamplesKWS2
Known GenesCRTC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123231
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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