A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027663



Internal ID19116882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:80559891..80580410hg38UCSC Ensembl
Innerchr5:79855710..79876229hg19UCSC Ensembl
Innerchr5:79891466..79911985hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3820520
hg1920520
hg1820520
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5707n100
Supporting Variantsnssv3639104, nssv3639080, nssv3639114, nssv3639113, nssv3639106, nssv3639097, nssv3639094, nssv3639092, nssv3639089, nssv3639109, nssv3639101, nssv3639099, nssv3639093, nssv3639102, nssv3639084, nssv3639085, nssv3639110, nssv3639081, nssv3639083, nssv3639098, nssv3639096, nssv3639108, nssv3639076, nssv3639077, nssv3639075, nssv3639100, nssv3639117, nssv3639107, nssv3639095, nssv3639086, nssv3639115, nssv3639087, nssv3639112, nssv3639103, nssv3639088, nssv3639078, nssv3639105, nssv3639079, nssv3639111, nssv3639116, nssv3639091, nssv3639090, nssv3639082
Samples
Known GenesANKRD34B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027663
Frequency
Sample Size11257
Observed Gain43
Observed Loss0
Observed Complex0
Frequencyn/a


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