A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3485799



Internal ID18726754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:178848551..178898098hg38UCSC Ensembl
Innerchr1:178817686..178867233hg19UCSC Ensembl
Innerchr1:177084309..177133856hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3849548
hg1949548
hg1849548
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1005359
Supporting Variants
Samples
Known GenesANGPTL1, RALGPS2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3485799
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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