A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057187



Internal ID18799718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:2906193..3065597hg38UCSC Ensembl
Innerchr20:2886839..3046243hg19UCSC Ensembl
Innerchr20:2834839..2994243hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38159405
hg19159405
hg18159405
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3599348
Samples
Known GenesGNRH2, MRPS26, PTPRA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057187
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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