A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144865



Internal ID18916475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:14433288..14433588hg38UCSC Ensembl
Outerchr19:14544100..14544400hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981464
SamplesKWS1
Known GenesPKN1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144865
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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