A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048301



Internal ID19137520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20056971..20411461hg38UCSC Ensembl
Innerchr15:20262224..20616714hg19UCSC Ensembl
Innerchr15:18522238..18876728hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38354491
hg19354491
hg18354491
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2197n100
Supporting Variantsnssv3538357
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)nsv1048301
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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