A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143578



Internal ID19268926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:12851174..12851521hg38UCSC Ensembl
Outerchr18:12851173..12851520hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1554n106
Supporting Variantsnssv3981252
SamplesKWS1
Known GenesPTPN2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143578
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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