A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14017044



Internal ID21169042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:14514365..14514365hg38UCSC Ensembl
chr1:14840861..14840861hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3064011
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)nssv14017044
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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