A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126917



Internal ID19272978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:109498020..109498320hg38UCSC Ensembl
Outerchr9:112260300..112260600hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3985195
SamplesKWS1
Known GenesPTPN3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126917
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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