A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14420682



Internal ID22158417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127881318..127881318hg38UCSC Ensembl
chr2:128638892..128638892hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3531167
Supporting Variants
SamplesHG00514
Known GenesAMMECR1L
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)nssv14420682
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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