A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14463995



Internal ID22230195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:35699600..35699600hg38UCSC Ensembl
chr5:35699702..35699702hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg382794
hg192794
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3540248
Supporting Variants
SamplesHG00733
Known GenesSPEF2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14463995
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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