A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060245



Internal ID18802776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83071419..83113079hg38UCSC Ensembl
Innerchr16:83105024..83146684hg19UCSC Ensembl
Innerchr16:81662525..81704185hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3841661
hg1941661
hg1841661
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3559861
Samples
Known GenesCDH13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060245
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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