A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056756



Internal ID19145975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:12992198..13112088hg38UCSC Ensembl
Innerchr21:14364519..14484409hg19UCSC Ensembl
Innerchr21:13286390..13406280hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38119891
hg19119891
hg18119891
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4375n100
Supporting Variantsnssv3585229
Samples
Known GenesANKRD30BP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056756
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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