A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042044



Internal ID18784575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:60862234..61803104hg38UCSC Ensembl
Innerchr12:61256015..62196885hg19UCSC Ensembl
Innerchr12:59542282..60483152hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38940871
hg19940871
hg18940871
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523643
Samples
Known GenesFAM19A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042044
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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