A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229445



Internal ID22371297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:140705760..140727165hg38UCSC Ensembl
OuterchrX:139787925..139809330hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg385507
hg195507
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270183, nssv14270181, nssv14270185, nssv14270186, nssv14270179, nssv14270180, nssv14270182, nssv14270187, nssv14270184
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLINC00632
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229445
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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