A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3179093



Internal ID22335359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56776935..56777274hg38UCSC Ensembl
chr1:57242608..57242947hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv230n152
Supporting Variantsnssv14425770, nssv14457566, nssv14400254
SamplesNA19240, HG00733, HG00514
Known GenesC1orf168
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3179093
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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