A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012563



Internal ID18755096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:70287649..70366435hg38UCSC Ensembl
Innerchr1:70753332..70832118hg19UCSC Ensembl
Innerchr1:70525920..70604706hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3878787
hg1978787
hg1878787
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3473337
Samples
Known GenesANKRD13C, HHLA3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012563
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