A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052676



Internal ID19141895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:85073021..85163010hg38UCSC Ensembl
Innerchr12:85466799..85556788hg19UCSC Ensembl
Innerchr12:83990930..84080919hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3889990
hg1989990
hg1889990
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524757
Samples
Known GenesLRRIQ1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052676
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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