A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547487



Internal ID15988210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109674350..109713598hg38UCSC Ensembl
Innerchr1:110216972..110256220hg19UCSC Ensembl
Innerchr1:110018495..110057743hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3839249
hg1939249
hg1839249
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv722239
Samples
Known GenesGSTM1, GSTM2, GSTM5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547487
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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