A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3047908



Internal ID21179954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:31316041..31316233hg38UCSC Ensembl
chr16:31327362..31327554hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38193
hg19193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv535n140
Supporting Variantsnssv14022208
SamplesNA12878
Known GenesITGAM
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)nsv3047908
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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