A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14252724



Internal ID22126574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:99825140..99844248hg38UCSC Ensembl
Outerchr10:101584897..101604005hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg381264
hg191264
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239184
Supporting Variants
SamplesHG00512
Known GenesABCC2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14252724
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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