A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009309



Internal ID18751840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127045154..127104681hg38UCSC Ensembl
Innerchr2:127802730..127862257hg19UCSC Ensembl
Innerchr2:127519200..127578727hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3859528
hg1959528
hg1859528
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4064n100
Supporting Variantsnssv3580730
Samples
Known GenesBIN1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009309
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