A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221736



Internal ID22366016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:147269450..147298842hg38UCSC Ensembl
OuterchrX:146350968..146380360hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg384425
hg194425
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270489, nssv14270490, nssv14270491, nssv14270492
SamplesHG00731, NA19240, HG00733, HG00513
Known GenesMIR510, MIR514A1, MIR514A2, MIR514A3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221736
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer