A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048767



Internal ID19137986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20086048..20525214hg38UCSC Ensembl
Innerchr15:20291301..20730453hg19UCSC Ensembl
Innerchr15:18551315..18990467hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38439167
hg19439153
hg18439153
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2202n100
Supporting Variantsnssv3537915
Samples
Known GenesCHEK2P2, HERC2P3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048767
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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