A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000703



Internal ID18743234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:142105805..142367817hg38UCSC Ensembl
Innerchr3:141824647..142086659hg19UCSC Ensembl
Innerchr3:143307337..143569349hg18UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38262013
hg19262013
hg18262013
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4912n100
Supporting Variantsnssv3606118, nssv3741483, nssv3741484, nssv3606117
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)nsv1000703
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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