A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14446737



Internal ID22242418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3095500..3095629hg38UCSC Ensembl
chr12:3204666..3204795hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3272964
Supporting Variants
SamplesHG00733
Known GenesTSPAN9
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a SVA mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14446737
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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