A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3532997



Internal ID22402316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17437673..17437673hg38UCSC Ensembl
chr1:17764169..17764169hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14412753, nssv14374808, nssv14438774
SamplesNA19240, HG00733, HG00514
Known GenesRCC2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3532997
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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