A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3580790



Internal ID18532385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127541503..127715505hg38UCSC Ensembl
Innerchr2:128299079..128473079hg19UCSC Ensembl
Innerchr2:128015549..128189549hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38174003
hg19174001
hg18174001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1006421
Supporting Variants
Samples
Known GenesGPR17, LIMS2, MYO7B, SFT2D3, WDR33
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3580790
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