A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3502088



Internal ID18800369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196774994..196913266hg38UCSC Ensembl
Innerchr1:196744124..196882396hg19UCSC Ensembl
Innerchr1:195010747..195149019hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38138273
hg19138273
hg18138273
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1006085
Supporting Variants
Samples
Known GenesCFHR1, CFHR3, CFHR4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3502088
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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