A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14321171



Internal ID22205896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:75661397..75661924hg38UCSC Ensembl
chr5:74957222..74957749hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38528
hg19528
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209789
Supporting Variants
SamplesHG00732
Known GenesANKDD1B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14321171
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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