A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515968



Internal ID15096575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7022281..8287918hg38UCSC Ensembl
Innerchr8:6879803..8145440hg19UCSC Ensembl
Innerchr8:6867213..8182850hg18UCSC Ensembl
Innerchr8:6867213..8182850hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381265638
hg191265638
hg181315638
hg171315638
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv675785, nssv693362, nssv699086, nssv690827, nssv676628, nssv675040, nssv665528, nssv688079, nssv689907, nssv655076, nssv687065, nssv678525, nssv694614, nssv698967
Samples
Known GenesDEFA11P, DEFA5, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM86B3P, FAM90A10P, FAM90A7P, LINC00965, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1P, USP17L3, USP17L4, USP17L8, ZNF705B, ZNF705G
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515968
Frequency
Sample Size2026
Observed Gain9
Observed Loss5
Observed Complex0
Frequencyn/a


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