A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3982990



Internal ID18876272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:112430618..112430670hg38UCSC Ensembl
Outerchr12:112868422..112868474hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1119986
Supporting Variants
SamplesKWS1
Known GenesPTPN11
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3982990
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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