A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002503



Internal ID19091720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:186186928..186237056hg38UCSC Ensembl
Innerchr1:186156060..186206188hg19UCSC Ensembl
Innerchr1:184422683..184472811hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3850129
hg1950129
hg1850129
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv479n100
Supporting Variantsnssv3484016, nssv3497852
Samples
Known GenesHMCN1, MIR548F1, RNU6-72P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002503
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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