A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006672



Internal ID18749203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131303945..131475879hg38UCSC Ensembl
Innerchr2:132061518..132233452hg19UCSC Ensembl
Innerchr2:131777988..131949922hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38171935
hg19171935
hg18171935
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4080n100
Supporting Variantsnssv3580863
Samples
Known GenesLINC01120, LOC401010, RNU6-81P, WTH3DI
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006672
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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