A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3498102



Internal ID19085743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143619856..143942259hg38UCSC Ensembl
Innerchr1:149114517..149436830hg19UCSC Ensembl
Innerchr1:147381141..147703454hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38322404
hg19322314
hg18322314
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1014796
Supporting Variants
Samples
Known GenesFCGR1C, 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)nssv3498102
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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