A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14022912



Internal ID21172051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8449528..8449835hg38UCSC Ensembl
chr19:8514412..8514719hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3048579
Supporting Variants
SamplesNA12878
Known GenesHNRNPM
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)nssv14022912
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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