A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547699



Internal ID15988422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143538619..143893539hg38UCSC Ensembl
Innerchr1:149029447..149388118hg19UCSC Ensembl
Innerchr1:147296071..147654742hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38354921
hg19358672
hg18358672
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv543n54
Supporting Variantsnssv723127, nssv723126, nssv723128
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)nsv547699
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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