A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14427152



Internal ID22167845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:1485053..1485053hg38UCSC Ensembl
chr7:1524689..1524689hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3530245
Supporting Variants
SamplesHG00514
Known GenesINTS1
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)nssv14427152
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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