A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523148



Internal ID15103755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:46702199..46705206hg38UCSC Ensembl
Innerchr6:46669936..46672943hg19UCSC Ensembl
Innerchr6:46777895..46780902hg18UCSC Ensembl
Innerchr6:46777895..46780902hg17UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg383008
hg193008
hg183008
hg173008
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698856
Samples
Known GenesPLA2G7, TDRD6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523148
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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