A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3532689



Internal ID22402012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:146382747..146382747hg38UCSC Ensembl
chrX:145464265..145464265hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14462003, nssv14405181, nssv14430173
SamplesNA19240, HG00733, HG00514
Known Genes
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)nsv3532689
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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