A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3500748



Internal ID18741703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236445006..236623173hg38UCSC Ensembl
Innerchr1:236608306..236786473hg19UCSC Ensembl
Innerchr1:234674929..234853096hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38178168
hg19178168
hg18178168
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1000668
Supporting Variants
Samples
Known GenesEDARADD, HEATR1, LGALS8, LGALS8-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3500748
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