A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14460596



Internal ID22241564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148169613..148176800hg38UCSC Ensembl
chr5:147549176..147556363hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg387188
hg197188
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208719
Supporting Variants
SamplesHG00733
Known GenesSPINK14
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14460596
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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