A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998643



Internal ID19158179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143714487..143878968hg38UCSC Ensembl
Innerchr1:149209144..149373529hg19UCSC Ensembl
Innerchr1:147475768..147640153hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38164482
hg19164386
hg18164386
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3499275
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)nsv998643
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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