A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1134263



Internal ID18918601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:112432493..112432549hg38UCSC Ensembl
Outerchr12:112870297..112870353hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3971747
SamplesKWS2
Known GenesPTPN11
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1134263
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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