A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212480



Internal ID22359717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:48669710..48684172hg38UCSC Ensembl
OuterchrX:48528099..48542561hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg381307
hg191307
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269095, nssv14269098, nssv14269094, nssv14269097, nssv14269099, nssv14269100, nssv14269096, nssv14269093
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesWAS
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212480
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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