A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277415



Internal ID22192799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:86819642..86881589hg38UCSC Ensembl
Outerchr7:86448958..86510905hg19UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg3861948
hg1961948
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222661
Supporting Variants
SamplesHG00731
Known GenesGRM3, KIAA1324L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277415
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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