A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270085



Internal ID22146766
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210349
Supporting Variants
SamplesHG00514
Known GenesMAGEA4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270085
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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