A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008457



Internal ID18750988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127541503..127648346hg38UCSC Ensembl
Innerchr2:128299079..128405921hg19UCSC Ensembl
Innerchr2:128015549..128122391hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38106844
hg19106843
hg18106843
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4068n100
Supporting Variantsnssv3580786
Samples
Known GenesGPR17, LIMS2, MYO7B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008457
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