A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210349



Internal ID22358283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:151888986..151919814hg38UCSC Ensembl
OuterchrX:151057458..151088286hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3830829
hg1930829
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270084, nssv14270083, nssv14270086, nssv14270085, nssv14270089, nssv14270091, nssv14270090, nssv14270088, nssv14270087
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMAGEA4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210349
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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