A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280270



Internal ID22126789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:43509020..43523466hg38UCSC Ensembl
Outerchr7:43548619..43563065hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213486
Supporting Variants
SamplesHG00512
Known GenesHECW1, LOC100506895
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280270
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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