A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212708



Internal ID22359875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:119918671..119938161hg38UCSC Ensembl
OuterchrX:119052634..119072124hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3848535
hg1948535
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270477
SamplesNA19240
Known GenesAKAP14, NKAP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212708
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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