A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515809



Internal ID15096416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143904439..144519234hg38UCSC Ensembl
Innerchr8:144978607..145744618hg19UCSC Ensembl
Innerchr8:145050595..145715426hg18UCSC Ensembl
Innerchr8:145050595..145715426hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38614796
hg19766012
hg18664832
hg17664832
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697495, nssv678442, nssv684895, nssv657105, nssv677163, nssv660144, nssv658922, nssv675373, nssv681012, nssv659811, nssv699069, nssv690379, nssv705660, nssv683355, nssv669632, nssv683295, nssv688165, nssv689689, nssv705822, nssv664838, nssv702166, nssv704389, nssv700446, nssv674649
Samples
Known GenesADCK5, BOP1, CPSF1, CYC1, CYHR1, DGAT1, EXOSC4, FAM203A, FBXL6, FOXH1, GPAA1, GPT, GRINA, HSF1, KIAA1875, KIFC2, LOC100287098, LRRC14, MAF1, MFSD3, MIR1234, MIR661, MIR6846, MIR6847, MIR6848, MIR6849, MIR6893, MIR7112-2, MIR939, MROH1, OPLAH, PARP10, PLEC, PPP1R16A, RECQL4, SCRT1, SCXA, SCXB, SHARPIN, SLC39A4, SLC52A2, SPATC1, TMEM249, TONSL, VPS28
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515809
Frequency
Sample Size2026
Observed Gain1
Observed Loss23
Observed Complex0
Frequencyn/a


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