A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005278



Internal ID18747809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179228510..179402260hg38UCSC Ensembl
Innerchr1:179197645..179371395hg19UCSC Ensembl
Innerchr1:177464268..177638018hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38173751
hg19173751
hg18173751
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3490103
Samples
Known GenesABL2, AXDND1, SOAT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005278
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