A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041204



Internal ID19130423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20190264..20441310hg38UCSC Ensembl
Innerchr15:20395517..20646563hg19UCSC Ensembl
Innerchr15:18655531..18906577hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38251047
hg19251047
hg18251047
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3538011, nssv3716436, nssv3538012, nssv3538014, nssv3538013
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)nsv1041204
Frequency
Sample Size11257
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


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