A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270136



Internal ID22188845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:126775219..126785013hg38UCSC Ensembl
OuterchrX:125909202..125918996hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38830
hg19830
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213362
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270136
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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