A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041583



Internal ID19130802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7212439..7280403hg38UCSC Ensembl
Innerchr12:7365035..7432999hg19UCSC Ensembl
Innerchr12:7256302..7324266hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3867965
hg1967965
hg1867965
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3513217
Samples
Known GenesPEX5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1041583
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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