A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277573



Internal ID22262814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:94486696..94609591hg38UCSC Ensembl
Outerchr7:94116008..94238903hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38122896
hg19122896
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213963
Supporting Variants
SamplesNA19238
Known GenesCASD1, SGCE
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277573
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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