A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001553



Internal ID18744084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:142105805..142344437hg38UCSC Ensembl
Innerchr3:141824647..142063279hg19UCSC Ensembl
Innerchr3:143307337..143545969hg18UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38238633
hg19238633
hg18238633
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4912n100
Supporting Variantsnssv3606115
Samples
Known GenesGK5, TFDP2, XRN1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001553
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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