A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998284



Internal ID19157821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143547043..143893007hg38UCSC Ensembl
Innerchr1:149041710..149387581hg19UCSC Ensembl
Innerchr1:147308334..147654205hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38345965
hg19345872
hg18345872
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv378n100
Supporting Variantsnssv3498902
Samples
Known GenesFCGR1C, LOC101929780, LOC388692, NBPF23
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998284
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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