A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061971



Internal ID19151190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:4950373..4985873hg38UCSC Ensembl
Innerchr20:4931019..4966519hg19UCSC Ensembl
Innerchr20:4879019..4914519hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3835501
hg1935501
hg1835501
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4240n100
Supporting Variantsnssv3599354, nssv3599353, nssv3599355
Samples
Known GenesSLC23A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061971
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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