A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517969



Internal ID15098576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:225035978..225044599hg38UCSC Ensembl
Innerchr2:225900695..225909316hg19UCSC Ensembl
Innerchr2:225608939..225617560hg18UCSC Ensembl
Innerchr2:225726200..225734821hg17UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg388622
hg198622
hg188622
hg178622
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695381
Samples
Known GenesDOCK10
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517969
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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