A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv660144



Internal ID15050110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143917935..144504344hg38UCSC Ensembl
Innerchr8:144992103..145729727hg19UCSC Ensembl
Innerchr8:145064091..145700535hg18UCSC Ensembl
Innerchr8:145064091..145700535hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38586410
hg19737625
hg18636445
hg17636445
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515809
Supporting Variants
Samples
Known GenesADCK5, BOP1, CPSF1, CYC1, CYHR1, DGAT1, EXOSC4, FAM203A, FBXL6, FOXH1, GPAA1, GPT, GRINA, HSF1, KIAA1875, KIFC2, LOC100287098, MAF1, MIR1234, MIR661, MIR6846, MIR6847, MIR6848, MIR6849, MIR6893, MIR7112-2, MIR939, MROH1, OPLAH, PARP10, PLEC, PPP1R16A, 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)nssv660144
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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