A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012780



Internal ID19101997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:205260230..205681547hg38UCSC Ensembl
Innerchr2:206124954..206546271hg19UCSC Ensembl
Innerchr2:205833199..206254516hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38421318
hg19421318
hg18421318
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3585565
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)nsv1012780
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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