A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001541



Internal ID19090758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:173629814..173689937hg38UCSC Ensembl
Innerchr2:174494542..174554665hg19UCSC Ensembl
Innerchr2:174202788..174262911hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3860124
hg1960124
hg1860124
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3583036
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001541
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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