A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192841



Internal ID22343372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:12614957..12657925hg38UCSC Ensembl
OuterchrX:12633076..12676044hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3842969
hg1942969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268820, nssv14268817, nssv14268818, nssv14268816, nssv14268815, nssv14268821, nssv14268823, nssv14268822, nssv14268819
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesFRMPD4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192841
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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