A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213612



Internal ID22360510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:89191961..89217079hg38UCSC Ensembl
OuterchrX:88446960..88472078hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg3811343
hg1911343
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270303, nssv14270299, nssv14270301, nssv14270302, nssv14270300
SamplesHG00512, NA19238, NA19240, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213612
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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