A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194837



Internal ID22345100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:157053383..157054191hg38UCSC Ensembl
chr5:156480394..156481202hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38809
hg19809
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14325129, nssv14325128
SamplesHG00732, HG00733
Known GenesHAVCR1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194837
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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