A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270150



Internal ID22122368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:131086794..131164779hg38UCSC Ensembl
OuterchrX:130220768..130298753hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg384523
hg194523
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223212
Supporting Variants
SamplesHG00512
Known GenesARHGAP36
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270150
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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