A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14338563



Internal ID22137300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:149280073..149280124hg38UCSC Ensembl
chr7:148977164..148977215hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224123
Supporting Variants
SamplesHG00513
Known GenesZNF783
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14338563
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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