A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14021721



Internal ID21172168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:37102871..37102871hg38UCSC Ensembl
chr1:37568472..37568472hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3056168
Supporting Variants
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)nssv14021721
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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