A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000254



Internal ID18742785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169234316..169302554hg38UCSC Ensembl
Innerchr1:169203554..169271792hg19UCSC Ensembl
Innerchr1:167470178..167538416hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3868239
hg1968239
hg1868239
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv459n100
Supporting Variantsnssv3483096
Samples
Known GenesNME7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000254
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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