A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003130



Internal ID18745662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:171332686..171380758hg38UCSC Ensembl
Innerchr2:172189196..172237268hg19UCSC Ensembl
Innerchr2:171897442..171945514hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3848073
hg1948073
hg1848073
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3583035
Samples
Known GenesMETTL8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003130
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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