A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14335472



Internal ID22128322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:96133879..96134101hg38UCSC Ensembl
chr7:95763191..95763413hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38223
hg19223
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3529255
Supporting Variants
SamplesHG00512
Known GenesSLC25A13
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14335472
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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