A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190210



Internal ID22341158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:35391782..35391915hg38UCSC Ensembl
chr1:35857383..35857516hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14394955
SamplesNA19240
Known GenesZMYM4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3190210
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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