A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14021243



Internal ID21171865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:1861991..1861991hg38UCSC Ensembl
chr2:1865763..1865763hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3057190
Supporting Variants
SamplesNA12878
Known GenesMYT1L
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)nssv14021243
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