A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14464985



Internal ID22217325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:28838227..28838227hg38UCSC Ensembl
chr7:28877844..28877844hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3530643
Supporting Variants
SamplesHG00733
Known Genes
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)nssv14464985
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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