A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014508



Internal ID18757042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:210278131..210350344hg38UCSC Ensembl
Innerchr2:211142855..211215068hg19UCSC Ensembl
Innerchr2:210851100..210923313hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3872214
hg1972214
hg1872214
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4163n100
Supporting Variantsnssv3585614
Samples
Known GenesMYL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014508
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