A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14450201



Internal ID22245409
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 StatusS
Merged Variantsnsv3530781
Supporting Variants
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)nssv14450201
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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