A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048054



Internal ID18790585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21952632..21994369hg38UCSC Ensembl
Innerchr16:21963953..22005690hg19UCSC Ensembl
Innerchr16:21871454..21913191hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3841738
hg1941738
hg1841738
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3548169
Samples
Known GenesPDZD9, UQCRC2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048054
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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