A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118817



Internal ID18920660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:16324689..16326389hg38UCSC Ensembl
Outerchr19:16435500..16437200hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg381701
hg191701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981131
SamplesKWS1
Known GenesKLF2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118817
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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