A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524047



Internal ID15104654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30962798..30995727hg38UCSC Ensembl
Innerchr12:31115733..31148662hg19UCSC Ensembl
Innerchr12:31007000..31039929hg18UCSC Ensembl
Innerchr12:31007000..31039929hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3832930
hg1932930
hg1832930
hg1732930
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699911
Samples
Known GenesTSPAN11
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524047
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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