A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277912



Internal ID22183834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:5973600..6751185hg38UCSC Ensembl
Outerchr7:6013231..6790816hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg381834
hg191834
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210810
Supporting Variants
SamplesHG00731
Known GenesAIMP2, ANKRD61, C7orf26, CYTH3, DAGLB, EIF2AK1, FAM220A, GRID2IP, KDELR2, PMS2, PMS2CL, RAC1, USP42, ZDHHC4, ZNF12, ZNF316, ZNF853
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277912
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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