A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3535801



Internal ID22405043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:136893196..136893196hg38UCSC Ensembl
chr3:136612038..136612038hg19UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14424029
SamplesHG00514
Known GenesNCK1
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)nsv3535801
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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