A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14336062



Internal ID22197032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:92227743..92228131hg38UCSC Ensembl
chr7:91857057..91857445hg19UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg38389
hg19389
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205050
Supporting Variants
SamplesHG00731
Known GenesKRIT1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14336062
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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