A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271209



Internal ID22123129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:7708840..7723973hg38UCSC Ensembl
OuterchrY:7576881..7592014hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg383301
hg193301
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228109
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271209
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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