A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229183



Internal ID22371110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:8329053..8369298hg38UCSC Ensembl
Outerchr17:8232371..8272616hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3840246
hg1940246
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261549, nssv14261546, nssv14261547, nssv14261548, nssv14261551, nssv14261550, nssv14261552
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733, HG00514
Known GenesKRBA2, LOC100128288, ODF4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229183
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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