A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010984



Internal ID19100201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:208265627..208284828hg38UCSC Ensembl
Innerchr1:208438972..208458173hg19UCSC Ensembl
Innerchr1:206505595..206524796hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3819202
hg1919202
hg1819202
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv566n100
Supporting Variantsnssv3484436, nssv3493807
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)nsv1010984
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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