A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14022208



Internal ID21172511
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 StatusS
Merged Variantsnsv3047908
Supporting Variants
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)nssv14022208
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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