A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277417



Internal ID22193131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:93071222..93142021hg38UCSC Ensembl
Outerchr7:92700535..92771334hg19UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg3870800
hg1970800
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218157
Supporting Variants
SamplesHG00731
Known GenesSAMD9, SAMD9L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277417
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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