A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002220



Internal ID19091437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143710035..143934622hg38UCSC Ensembl
Innerchr1:149204683..149429194hg19UCSC Ensembl
Innerchr1:147471307..147695818hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38224588
hg19224512
hg18224512
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv396n100
Supporting Variantsnssv3484638
Samples
Known GenesFCGR1C, LOC388692
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002220
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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