A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3062933



Internal ID21194463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39481634..39481689hg38UCSC Ensembl
chr17:37637887..37637942hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14033539
SamplesNA12878
Known GenesCDK12
MethodSequencing
AnalysisCombines the NGS (e.g., Illumina) and SMS (e.g., Pacbio) for detecting large and small SVs (parameters the same as commit eee31f6 of https://bitbucket.org/xianfan/hybridassemblysv)
Platform
Comments
ReferenceFan_et_al_2017
Pubmed ID28104618
Accession Number(s)nsv3062933
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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