A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040342



Internal ID19129561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20248994..20381692hg38UCSC Ensembl
Innerchr15:20454247..20586945hg19UCSC Ensembl
Innerchr15:18714261..18846959hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38132699
hg19132699
hg18132699
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2220n100
Supporting Variantsnssv3534815, nssv3534814
Samples
Known GenesCHEK2P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040342
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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