A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1035821



Internal ID18778352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:43534669..43622675hg38UCSC Ensembl
Innerchr12:43928472..44016478hg19UCSC Ensembl
Innerchr12:42214739..42302745hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3888007
hg1988007
hg1888007
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523511
Samples
Known GenesADAMTS20
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1035821
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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