A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038200



Internal ID18780731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99401503..99411597hg38UCSC Ensembl
Innerchr12:99795281..99805375hg19UCSC Ensembl
Innerchr12:98319412..98329506hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3810095
hg1910095
hg1810095
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524854, nssv3524855
Samples
Known GenesANKS1B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1038200
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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