A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057508



Internal ID19146727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:42550060..42614847hg38UCSC Ensembl
Innerchr20:41178700..41243487hg19UCSC Ensembl
Innerchr20:40612114..40676901hg18UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg3864788
hg1964788
hg1864788
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4310n100
Supporting Variantsnssv3737203, nssv3584794, nssv3737204, nssv3737201, nssv3584795, nssv3584796, nssv3737205, nssv3584793, nssv3584797, nssv3737202
Samples
Known GenesPTPRT
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057508
Frequency
Sample Size11257
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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