A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048747



Internal ID19137966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:74203631..74280953hg38UCSC Ensembl
Innerchr12:74597411..74674733hg19UCSC Ensembl
Innerchr12:72883678..72961000hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3877323
hg1977323
hg1877323
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1528n100
Supporting Variantsnssv3524634
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)nsv1048747
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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