A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055170



Internal ID18797701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44527801..44595409hg38UCSC Ensembl
Innerchr21:45947684..46015300hg19UCSC Ensembl
Innerchr21:44772112..44839728hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3867609
hg1967617
hg1867617
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4435n100
Supporting Variantsnssv3600222
Samples
Known GenesKRTAP10-1, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, 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)nsv1055170
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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