A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14029639



Internal ID21162387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45890270..45890270hg38UCSC Ensembl
chr3:45931762..45931762hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3045654
Supporting Variants
SamplesNA12878
Known GenesCCR9, LZTFL1
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)nssv14029639
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer