A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057395



Internal ID19146614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13197951..13765257hg38UCSC Ensembl
Innerchr21:14570272..15137578hg19UCSC Ensembl
Innerchr21:13492143..14059449hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38567307
hg19567307
hg18567307
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4383n100
Supporting Variantsnssv3585276, nssv3585278, nssv3585277
Samples
Known GenesLOC100288966, MIR3156-3, MIR8069, POTED
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057395
Frequency
Sample Size11257
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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