A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123252



Internal ID18933066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:38132708..38132762hg38UCSC Ensembl
Outerchr19:38623348..38623402hg19UCSC Ensembl
Cytoband19q13.13
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972251
SamplesKWS2
Known GenesSIPA1L3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123252
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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