A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000244



Internal ID19089461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:88861741..89152659hg38UCSC Ensembl
Innerchr2:89161253..89452143hg19UCSC Ensembl
Innerchr2:88942368..89233258hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38290919
hg19290891
hg18290891
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3926n100
Supporting Variantsnssv3729879, nssv3729880
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)nsv1000244
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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