A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3530781



Internal ID22400151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233176519..233176519hg38UCSC Ensembl
chr2:234085165..234085165hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14450201
SamplesHG00733
Known GenesINPP5D
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)nsv3530781
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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