A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014918



Internal ID18757453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:772650..1424430hg38UCSC Ensembl
Innerchr2:772650..1428202hg19UCSC Ensembl
Innerchr2:762650..1407209hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38651781
hg19655553
hg18644560
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3571272
Samples
Known GenesLINC01115, 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)nsv1014918
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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