A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280124



Internal ID22199312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:102378572..102387602hg38UCSC Ensembl
Outerchr7:102019019..102028049hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38631
hg19631
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224104
Supporting Variants
SamplesHG00732
Known GenesLOC100289561, LOC100630923
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280124
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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