A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280567



Internal ID22198109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:58169474..58214283hg38UCSC Ensembl
Outerchr10:59929235..59974044hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3844810
hg1944810
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228722
Supporting Variants
SamplesHG00732
Known GenesIPMK
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280567
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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