A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14243473



Internal ID21305137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:8285313..8300183hg38UCSC Ensembl
Outerchr19:8270055..8313986hg38UCSC Ensembl
Innerchr19:8350197..8365067hg19UCSC Ensembl
Outerchr19:8334939..8378870hg19UCSC Ensembl
Innerchr19:8256197..8271067hg18UCSC Ensembl
Outerchr19:8240939..8284870hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3843932
hg1943932
hg1843932
Variant TypeCNV deletion
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169361
Supporting Variants
SamplesNGO_19
Known GenesCD320, NDUFA7
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14243473
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