A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062761



Internal ID18805292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:12992198..13564415hg38UCSC Ensembl
Innerchr21:14364519..14936736hg19UCSC Ensembl
Innerchr21:13286390..13858607hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38572218
hg19572218
hg18572218
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4377n100
Supporting Variantsnssv3585258
Samples
Known GenesANKRD30BP2, MIR3156-3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062761
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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