A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229952



Internal ID22371633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:89199776..89223644hg38UCSC Ensembl
OuterchrX:88454775..88478643hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg387040
hg197040
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270451, nssv14270452, nssv14270450, nssv14270448, nssv14270449
SamplesNA19239, HG00731, HG00732, NA19240, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229952
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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