A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3480548



Internal ID19069238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:45706164..45972580hg38UCSC Ensembl
Innerchr1:46171836..46438252hg19UCSC Ensembl
Innerchr1:45944423..46210839hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38266417
hg19266417
hg18266417
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1000498
Supporting Variants
Samples
Known GenesIPP, MAST2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3480548
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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