A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039741



Internal ID18782272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:61653069..62097271hg38UCSC Ensembl
Innerchr12:62046850..62491052hg19UCSC Ensembl
Innerchr12:60333117..60777319hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38444203
hg19444203
hg18444203
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523662
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)nsv1039741
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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