A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001471



Internal ID19090688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:105895390..105923477hg38UCSC Ensembl
Innerchr2:106511846..106539933hg19UCSC Ensembl
Innerchr2:105878278..105906365hg18UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg3828088
hg1928088
hg1828088
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4033n100
Supporting Variantsnssv3580104, nssv3580105, nssv3580106
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001471
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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