A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009992



Internal ID18752523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:35949901..36009793hg38UCSC Ensembl
Innerchr1:36415502..36475394hg19UCSC Ensembl
Innerchr1:36188089..36247981hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3859893
hg1959893
hg1859893
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3469781, nssv3463535
Samples
Known GenesAGO3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009992
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer