A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527552



Internal ID8421827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:45379907..45381772hg38UCSC Ensembl
Innerchr6:45347644..45349509hg19UCSC Ensembl
Innerchr6:45455622..45457487hg18UCSC Ensembl
Innerchr6:45455622..45457487hg17UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg381866
hg191866
hg181866
hg171866
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704013
Samples
Known GenesRUNX2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527552
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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