A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14347719



Internal ID22121988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:125319339..125319478hg38UCSC Ensembl
chr9:128081618..128081757hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218014
Supporting Variants
SamplesHG00512
Known GenesGAPVD1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14347719
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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