A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253478



Internal ID22185832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:3092335..3114052hg38UCSC Ensembl
Outerchr10:3134527..3156244hg19UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3247937
Supporting Variants
SamplesHG00731
Known GenesPFKP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253478
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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