A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549129



Internal ID15989852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:211578158..211579752hg38UCSC Ensembl
Innerchr1:211751500..211753094hg19UCSC Ensembl
Innerchr1:209818123..209819717hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381595
hg191595
hg181595
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv736830, nssv736829
Samples
Known GenesSLC30A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549129
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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