A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3535182



Internal ID22404438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41543677..41543677hg38UCSC Ensembl
chr1:42009348..42009348hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg381436
hg191436
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14440956
SamplesHG00733
Known GenesHIVEP3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3535182
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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