A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136159



Internal ID18909244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:123271053..123272153hg38UCSC Ensembl
Outerchr12:123755600..123756700hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381101
hg191101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv884n106
Supporting Variantsnssv3989765
SamplesKWS2
Known GenesCDK2AP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136159
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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