A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700226



Internal ID15090192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:136795692..137482216hg38UCSC Ensembl
Innerchr9:139690144..140376668hg19UCSC Ensembl
Innerchr9:138809965..139496489hg18UCSC Ensembl
Innerchr9:136965981..137652505hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38686525
hg19686525
hg18686525
hg17686525
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524322
Supporting Variants
Samples
Known GenesABCA2, ANAPC2, C8G, C9orf139, C9orf142, C9orf169, C9orf172, C9orf173, CCDC183, CCDC183-AS1, CLIC3, DPP7, EDF1, ENTPD2, ENTPD8, EXD3, FAM166A, FBXW5, FUT7, GRIN1, LCN12, LCNL1, LOC100129722, LRRC26, MAMDC4, MAN1B1, MAN1B1-AS1, MIR3621, MIR4292, MIR4479, MIR7114, NDOR1, NELFB, NOXA1, NPDC1, NRARP, NSMF, PHPT1, PNPLA7, PTGDS, RABL6, RNF208, RNF224, SAPCD2, SLC34A3, SSNA1, TMEM203, TMEM210, TOR4A, TPRN, TRAF2, TUBB4B, UAP1L1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700226
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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