A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv669632



Internal ID15059598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143917935..144519234hg38UCSC Ensembl
Innerchr8:144992103..145744618hg19UCSC Ensembl
Innerchr8:145064091..145715426hg18UCSC Ensembl
Innerchr8:145064091..145715426hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38601300
hg19752516
hg18651336
hg17651336
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, 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)nssv669632
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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