A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004885



Internal ID19094102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:8466066..8499100hg38UCSC Ensembl
Innerchr2:8606196..8639230hg19UCSC Ensembl
Innerchr2:8523647..8556681hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3833035
hg1933035
hg1833035
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3712n100
Supporting Variantsnssv3576941, nssv3576940
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)nsv1004885
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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