A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047574



Internal ID19136793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:74205883..74293883hg38UCSC Ensembl
Innerchr12:74599663..74687663hg19UCSC Ensembl
Innerchr12:72885930..72973930hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3888001
hg1988001
hg1888001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1528n100
Supporting Variantsnssv3524636
Samples
Known GenesLOC100507377
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047574
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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