A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003070



Internal ID19092287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:186188108..186232876hg38UCSC Ensembl
Innerchr1:186157240..186202008hg19UCSC Ensembl
Innerchr1:184423863..184468631hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3844769
hg1944769
hg1844769
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv479n100
Supporting Variantsnssv3488060
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)nsv1003070
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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