A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055719



Internal ID18798250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44527151..44586005hg38UCSC Ensembl
Innerchr21:45947034..46005886hg19UCSC Ensembl
Innerchr21:44771462..44830314hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3858855
hg1958853
hg1858853
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4435n100
Supporting Variantsnssv3733460
Samples
Known GenesKRTAP10-1, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, MIR7975, TSPEAR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055719
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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