A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14016641



Internal ID21168769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4714738..4714837hg38UCSC Ensembl
chr17:4618033..4618132hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3047979
Supporting Variants
SamplesNA12878
Known GenesARRB2
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)nssv14016641
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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