A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048748



Internal ID19137967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:77094510..77171292hg38UCSC Ensembl
Innerchr12:77488290..77565072hg19UCSC Ensembl
Innerchr12:76012421..76089203hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3876783
hg1976783
hg1876783
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524643
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)nsv1048748
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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