A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002473



Internal ID19091690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143567307..143934622hg38UCSC Ensembl
Innerchr1:149061968..149429194hg19UCSC Ensembl
Innerchr1:147328592..147695818hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38367316
hg19367227
hg18367227
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv379n100
Supporting Variantsnssv3500734, nssv3486764
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)nsv1002473
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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