A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057962



Internal ID19147181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10550369..10775598hg38UCSC Ensembl
Innerchr21:10736859..10962088hg19UCSC Ensembl
Innerchr21:9758730..9983959hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38225230
hg19225230
hg18225230
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4350n100
Supporting Variantsnssv3583606, nssv3732467
Samples
Known GenesTPTE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057962
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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