A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042971



Internal ID19132190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:41776859..41812041hg38UCSC Ensembl
Innerchr12:42170661..42205843hg19UCSC Ensembl
Innerchr12:40456928..40492110hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3835183
hg1935183
hg1835183
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523508
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042971
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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