A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268931



Internal ID22188277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:74900244..74942201hg38UCSC Ensembl
OuterchrX:74120079..74162036hg19UCSC Ensembl
CytobandXq13.3
Allele length
AssemblyAllele length
hg3841958
hg1941958
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201410
Supporting Variants
SamplesHG00731
Known GenesKIAA2022
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268931
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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