A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14455272



Internal ID22249731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75988895..75988895hg38UCSC Ensembl
chr7:75618213..75618213hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3535106
Supporting Variants
SamplesHG00733
Known GenesTMEM120A
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)nssv14455272
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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