A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270179



Internal ID22122380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:140705760..140727165hg38UCSC Ensembl
OuterchrX:139787925..139809330hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg385507
hg195507
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229445
Supporting Variants
SamplesHG00512
Known GenesLINC00632
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270179
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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