A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548339



Internal ID15989062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179717109..179753692hg38UCSC Ensembl
Innerchr1:179686244..179722827hg19UCSC Ensembl
Innerchr1:177952867..177989450hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3836584
hg1936584
hg1836584
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173926
SamplesHGDP01042
Known GenesFAM163A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548339
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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