A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067144



Internal ID18809675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:81095693..81148036hg38UCSC Ensembl
Innerchr16:81129298..81181641hg19UCSC Ensembl
Innerchr16:79686799..79739142hg18UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3852344
hg1952344
hg1852344
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3719081
Samples
Known GenesGCSH, PKD1L2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067144
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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