A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008512



Internal ID18751043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195982791..196248065hg38UCSC Ensembl
Innerchr3:195709662..195974936hg19UCSC Ensembl
Innerchr3:197194059..197459333hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38265275
hg19265275
hg18265275
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3616990
Samples
Known GenesLINC00885, PCYT1A, SDHAP1, SLC51A, TFRC, ZDHHC19
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008512
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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