A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138660



Internal ID19271796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:5742279..5742341hg38UCSC Ensembl
Outerchr19:5742290..5742352hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972208, nssv3971219
SamplesKWS2, KWS1
Known GenesCATSPERD
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138660
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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