A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029710



Internal ID19118929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50159790..50230181hg38UCSC Ensembl
Innerchr5:49455624..49526015hg19UCSC Ensembl
Innerchr5:49491381..49561772hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3870392
hg1970392
hg1870392
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5661n100
Supporting Variantsnssv3642059, nssv3642057, nssv3642069, nssv3642068, nssv3642067, nssv3642062, nssv3642071, nssv3642065, nssv3745977, nssv3642070, nssv3642063, nssv3642066, nssv3642061, nssv3642060, nssv3642072, nssv3642058, nssv3642064
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029710
Frequency
Sample Size11257
Observed Gain16
Observed Loss1
Observed Complex0
Frequencyn/a


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