A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3489213



Internal ID19076854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196854175..196940503hg38UCSC Ensembl
Innerchr1:196823305..196909633hg19UCSC Ensembl
Innerchr1:195089928..195176256hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3886329
hg1986329
hg1886329
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1002597
Supporting Variants
Samples
Known GenesCFHR4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3489213
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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