A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000229



Internal ID18742760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:167264332..167315960hg38UCSC Ensembl
Innerchr1:167233569..167285197hg19UCSC Ensembl
Innerchr1:165500193..165551821hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3851629
hg1951629
hg1851629
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3483072
Samples
Known GenesPOU2F1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000229
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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