A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000005



Internal ID19089222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:62169124..62222381hg38UCSC Ensembl
Innerchr2:62396259..62449516hg19UCSC Ensembl
Innerchr2:62249763..62303020hg18UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg3853258
hg1953258
hg1853258
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3577253
Samples
Known GenesB3GNT2, MIR5192
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000005
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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