A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048081



Internal ID19137300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:5106952..5279432hg38UCSC Ensembl
Innerchr10:5149144..5321395hg19UCSC Ensembl
Innerchr10:5139144..5311395hg18UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg38172481
hg19172252
hg18172252
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3490487
Samples
Known GenesAKR1C3, AKR1C4, AKR1CL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048081
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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