A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271336



Internal ID22123851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:110211497..110227824hg38UCSC Ensembl
Outerchr1:110754119..110770446hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38510
hg19510
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210969
Supporting Variants
SamplesHG00512
Known GenesKCNC4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271336
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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