A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011505



Internal ID18754039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:157303324..157624221hg38UCSC Ensembl
Innerchr2:158159836..158480733hg19UCSC Ensembl
Innerchr2:157868082..158188979hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38320898
hg19320898
hg18320898
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3729265
Samples
Known GenesACVR1C, CYTIP, ERMN, GALNT5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011505
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