A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006445



Internal ID19095662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:88861741..89178190hg38UCSC Ensembl
Innerchr2:89161253..89477674hg19UCSC Ensembl
Innerchr2:88942368..89258789hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38316450
hg19316422
hg18316422
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3932n100
Supporting Variantsnssv3729884, nssv3729883
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)nsv1006445
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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