A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013457



Internal ID19102675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:87259942..87661069hg38UCSC Ensembl
Innerchr2:87487065..87960588hg19UCSC Ensembl
Innerchr2:87340576..87741703hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38401128
hg19473524
hg18401128
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3892n100
Supporting Variantsnssv3582420, nssv3582417, nssv3582414, nssv3582421, nssv3582419, nssv3582416, nssv3582415, nssv3728783, nssv3582418
Samples
Known GenesLINC00152, MIR4435-1, MIR4435-2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013457
Frequency
Sample Size11257
Observed Gain6
Observed Loss3
Observed Complex0
Frequencyn/a


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