A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044757



Internal ID19133976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:94689338..94881584hg38UCSC Ensembl
Innerchr12:95083114..95275360hg19UCSC Ensembl
Innerchr12:93607245..93799491hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38192247
hg19192247
hg18192247
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524829, nssv3524828
Samples
Known GenesKRT19P2, MIR492
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044757
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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