A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3593083



Internal ID18544678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:13485961..14213016hg38UCSC Ensembl
Innerchr3:13527461..14254516hg19UCSC Ensembl
Innerchr3:13502461..14229520hg18UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38727056
hg19727056
hg18727060
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1011766
Supporting Variants
Samples
Known GenesCHCHD4, FBLN2, FGD5P1, HDAC11, LINC00620, LSM3, TMEM43, TPRXL, WNT7A, XPC
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3593083
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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