A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv723250



Internal ID15670520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143544453..143905676hg38UCSC Ensembl
Innerchr1:149039120..149400252hg19UCSC Ensembl
Innerchr1:147305744..147666876hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38361224
hg19361133
hg18361133
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv547719
Supporting Variants
Samples
Known GenesFCGR1C, LOC101929780, LOC388692, NBPF23
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv723250
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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