A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3747317



Internal ID19045598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:76315772..76347773hg38UCSC Ensembl
Innerchr5:75611597..75643598hg19UCSC Ensembl
Innerchr5:75647353..75679354hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3832002
hg1932002
hg1832002
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1028669
Supporting Variants
Samples
Known GenesSV2C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3747317
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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