A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278499



Internal ID22262885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:31643087..31669304hg38UCSC Ensembl
Outerchr7:31682701..31708918hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38699
hg19699
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223766
Supporting Variants
SamplesNA19238
Known GenesCCDC129
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278499
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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