A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705822



Internal ID15095788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143917935..144351822hg38UCSC Ensembl
Innerchr8:144992103..145575487hg19UCSC Ensembl
Innerchr8:145064091..145546295hg18UCSC Ensembl
Innerchr8:145064091..145546295hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38433888
hg19583385
hg18482205
hg17482205
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515809
Supporting Variants
Samples
Known GenesBOP1, CYC1, DGAT1, EXOSC4, FAM203A, GPAA1, GRINA, HSF1, KIAA1875, MAF1, MIR661, MIR6846, MIR6847, MIR6848, MIR7112-2, MROH1, OPLAH, PARP10, PLEC, SCRT1, SCXA, SCXB, SHARPIN, SPATC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705822
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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