A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012548



Internal ID19101765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:72284165..72343056hg38UCSC Ensembl
Innerchr1:72749848..72808739hg19UCSC Ensembl
Innerchr1:72522436..72581327hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3858892
hg1958892
hg1858892
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv181n100
Supporting Variantsnssv3473313
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012548
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