A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056847



Internal ID19146066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13222943..13765257hg38UCSC Ensembl
Innerchr21:14595264..15137578hg19UCSC Ensembl
Innerchr21:13517135..14059449hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38542315
hg19542315
hg18542315
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4381n100
Supporting Variantsnssv3585304
Samples
Known GenesLOC100288966, MIR3156-3, MIR8069, POTED
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056847
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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