A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3471864



Internal ID18717992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:61949239..61962858hg38UCSC Ensembl
Innerchr1:62414911..62428530hg19UCSC Ensembl
Innerchr1:62187499..62201118hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3813620
hg1913620
hg1813620
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1011842
Supporting Variants
Samples
Known GenesINADL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3471864
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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