A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049949



Internal ID19139168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8856013..8896602hg38UCSC Ensembl
Innerchr12:9008609..9049198hg19UCSC Ensembl
Innerchr12:8899876..8940465hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3840590
hg1940590
hg1840590
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3518500
Samples
Known GenesA2ML1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049949
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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