A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3537685



Internal ID22406884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:8497247..8497247hg38UCSC Ensembl
chr1:8557307..8557307hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38782
hg19782
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14385569, nssv14440078
SamplesNA19240, HG00733
Known GenesRERE
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3537685
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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