A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224104



Internal ID22367644
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280124
SamplesHG00732
Known GenesLOC100289561, LOC100630923
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224104
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer