A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548244



Internal ID16335653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:175461719..175788106hg38UCSC Ensembl
Innerchr1:175430855..175757242hg19UCSC Ensembl
Innerchr1:173697478..174023865hg18UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38326388
hg19326388
hg18326388
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv637n54
Supporting Variantsnssv729106, nssv729105
Samples
Known GenesTNR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548244
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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