A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277419



Internal ID22198833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:93897007..93919390hg38UCSC Ensembl
Outerchr7:93526319..93548702hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg3822384
hg1922384
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211188
Supporting Variants
SamplesHG00732
Known GenesGNGT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277419
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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