A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210613



Internal ID22358454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:710383..734999hg38UCSC Ensembl
OuterchrX:671118..695734hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg382436
hg192436
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269482, nssv14269480, nssv14269483, nssv14269481
SamplesHG00512, NA19238, NA19240, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210613
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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