A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010210



Internal ID19099428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:204624930..205211289hg38UCSC Ensembl
Innerchr2:205489653..206076013hg19UCSC Ensembl
Innerchr2:205197898..205784258hg18UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg38586360
hg19586361
hg18586361
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3729332
Samples
Known GenesPARD3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010210
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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