A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057160



Internal ID18799691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:12992198..13661646hg38UCSC Ensembl
Innerchr21:14364519..15033967hg19UCSC Ensembl
Innerchr21:13286390..13955838hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38669449
hg19669449
hg18669449
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4377n100
Supporting Variantsnssv3585259
Samples
Known GenesANKRD30BP2, LOC100288966, MIR3156-3, POTED
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057160
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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