A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122703



Internal ID19262188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:19168516..19168580hg38UCSC Ensembl
Outerchr12:19321450..19321514hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3971288
SamplesKWS2
Known GenesPLEKHA5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122703
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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