A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14020941



Internal ID21171680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:16739590..16739590hg38UCSC Ensembl
chr4:16741213..16741213hg19UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3045490
Supporting Variants
SamplesNA12878
Known GenesLDB2
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)nssv14020941
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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