A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1145980



Internal ID19202319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:12851177..12851507hg38UCSC Ensembl
Outerchr18:12851176..12851506hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997338
SamplesKWB1
Known GenesPTPN2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1145980
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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