A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14390512



Internal ID22305549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63747990..63748119hg38UCSC Ensembl
chr17:61825350..61825479hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3528666
Supporting Variants
SamplesNA19240
Known GenesCCDC47
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14390512
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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