A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197276



Internal ID22347178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:72655441..72697764hg38UCSC Ensembl
OuterchrX:71875291..71917614hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg3842324
hg1942324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268926
SamplesHG00731
Known GenesPHKA1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197276
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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