A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044933



Internal ID19134152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20011690..20359322hg38UCSC Ensembl
Innerchr15:20216943..20564575hg19UCSC Ensembl
Innerchr15:18476957..18824589hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38347633
hg19347633
hg18347633
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2180n100
Supporting Variantsnssv3535727, nssv3535726
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)nsv1044933
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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