A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1148901



Internal ID15507868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:2055054..2200730hg38UCSC Ensembl
Innerchr16:2105055..2250731hg19UCSC Ensembl
Innerchr16:2045056..2190732hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38145677
hg19145677
hg18145677
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv571190
Supporting Variants
Samples1780862197_A
Known GenesCASKIN1, MIR1225, MIR3180-5, MIR4516, MIR6511B-1, PKD1, RAB26, SNORD60, TRAF7, TSC2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1148901
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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