A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14427182



Internal ID22167893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:2515036..2515036hg38UCSC Ensembl
chr7:2554670..2554670hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38432
hg19432
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3535715
Supporting Variants
SamplesHG00514
Known GenesLFNG
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14427182
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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