A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14440058



Internal ID22236647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6940912..6940912hg38UCSC Ensembl
chr1:7000972..7000972hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38554
hg19554
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3537752
Supporting Variants
SamplesHG00733
Known GenesCAMTA1
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)nssv14440058
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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