A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005443



Internal ID18747974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:1080998..1747280hg38UCSC Ensembl
Innerchr2:1076684..1751052hg19UCSC Ensembl
Innerchr2:1066684..1730059hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38666283
hg19674369
hg18663376
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3571273
Samples
Known GenesPXDN, SNTG2, TPO
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005443
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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