A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006507



Internal ID19095724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:225863170..225919468hg38UCSC Ensembl
Innerchr2:226727886..226784184hg19UCSC Ensembl
Innerchr2:226436130..226492428hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3856299
hg1956299
hg1856299
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3729363
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)nsv1006507
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