A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3534216



Internal ID22403506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:120374853..120374853hg38UCSC Ensembl
chrX:119508708..119508708hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14430349
SamplesHG00514
Known GenesATP1B4
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)nsv3534216
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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