A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14242595



Internal ID21309044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:53108689..53113609hg38UCSC Ensembl
Outerchr5:53106218..53115955hg38UCSC Ensembl
Innerchr5:52404519..52409439hg19UCSC Ensembl
Outerchr5:52402048..52411785hg19UCSC Ensembl
Innerchr5:52440276..52445196hg18UCSC Ensembl
Outerchr5:52437805..52447542hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg389738
hg199738
hg189738
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169422
Supporting Variants
SamplesNGO_47
Known GenesLOC257396, MOCS2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14242595
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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