A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259302



Internal ID22201394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:1328747..1432511hg38UCSC Ensembl
Outerchr1:1264127..1367891hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg381737
hg191737
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216605
Supporting Variants
SamplesHG00732
Known GenesANKRD65, AURKAIP1, CCNL2, DVL1, GLTPD1, LOC148413, MIR6808, MRPL20, MXRA8, TAS1R3, TMEM88B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259302
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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