A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548465



Internal ID16335874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:188443614..188486794hg38UCSC Ensembl
Innerchr1:188412745..188455925hg19UCSC Ensembl
Innerchr1:186679368..186722548hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3843181
hg1943181
hg1843181
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173939
SamplesNINDS_272
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548465
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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