A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522318



Internal ID15449611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:141243157..141291925hg38UCSC Ensembl
Innerchr8:142253256..142302024hg19UCSC Ensembl
Innerchr8:142322438..142371206hg18UCSC Ensembl
Innerchr8:142322438..142371206hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3848769
hg1948769
hg1848769
hg1748769
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694155
Samples
Known GenesSLC45A4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522318
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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