A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14433574



Internal ID22176376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:209904707..209912623hg38UCSC Ensembl
chr1:210078052..210085968hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg387917
hg197917
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3281035
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14433574
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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