A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209750



Internal ID22357780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:127442914..127470087hg38UCSC Ensembl
OuterchrX:126576895..126604068hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg3827174
hg1927174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269460, nssv14269459
SamplesHG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209750
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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