A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3468539



Internal ID18716208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53079580..53117512hg38UCSC Ensembl
Innerchr1:53545252..53583184hg19UCSC Ensembl
Innerchr1:53317840..53355772hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3837933
hg1937933
hg1837933
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1003159
Supporting Variants
Samples
Known GenesPODN, SLC1A7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3468539
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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