A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14410180



Internal ID22316688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:237883957..237884009hg38UCSC Ensembl
chr1:238047257..238047309hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3281437
Supporting Variants
SamplesNA19240
Known GenesLOC100130331, ZP4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14410180
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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