A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013908



Internal ID19103127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:207577371..207629609hg38UCSC Ensembl
Innerchr2:208442095..208494333hg19UCSC Ensembl
Innerchr2:208150340..208202578hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3852239
hg1952239
hg1852239
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3585597
Samples
Known GenesCREB1, METTL21A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013908
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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