A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3704826



Internal ID18656421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:176443038..176491284hg38UCSC Ensembl
Innerchr1:176412174..176460420hg19UCSC Ensembl
Innerchr1:174678797..174727043hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3848247
hg1948247
hg1848247
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1004658
Supporting Variants
Samples
Known GenesPAPPA2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3704826
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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