A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041199



Internal ID19130418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20011690..20512131hg38UCSC Ensembl
Innerchr15:20216943..20717374hg19UCSC Ensembl
Innerchr15:18476957..18977388hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38500442
hg19500432
hg18500432
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2186n100
Supporting Variantsnssv3536946, nssv3536944, nssv3536949, nssv3536947, nssv3715756, nssv3536945, nssv3536948
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)nsv1041199
Frequency
Sample Size11257
Observed Gain5
Observed Loss2
Observed Complex0
Frequencyn/a


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