A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3062938



Internal ID21194468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6030253..6030515hg38UCSC Ensembl
chr17:5933573..5933835hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv564n140
Supporting Variantsnssv14034718
SamplesNA12878
Known Genes
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)nsv3062938
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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