A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012256



Internal ID18754789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109681750..109727220hg38UCSC Ensembl
Innerchr1:110224372..110269842hg19UCSC Ensembl
Innerchr1:110025895..110071365hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3845471
hg1945471
hg1845471
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv270n100
Supporting Variantsnssv3492848
Samples
Known GenesGSTM1, GSTM2, GSTM5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012256
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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