A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045628



Internal ID19134847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20235273..20372896hg38UCSC Ensembl
Innerchr15:20440526..20578149hg19UCSC Ensembl
Innerchr15:18700540..18838163hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38137624
hg19137624
hg18137624
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2220n100
Supporting Variantsnssv3716537, nssv3716539, nssv3539406, nssv3539404, nssv3539405, nssv3716538
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)nsv1045628
Frequency
Sample Size11257
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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