A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14397242



Internal ID22305927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:15350224..15350224hg38UCSC Ensembl
chr4:15351848..15351848hg19UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg38221
hg19221
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3533539
Supporting Variants
SamplesNA19240
Known GenesC1QTNF7
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)nssv14397242
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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