A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042974



Internal ID19132193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20235273..20996195hg38UCSC Ensembl
Innerchr15:20440526..21201524hg19UCSC Ensembl
Innerchr15:18700540..19466183hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38760923
hg19760999
hg18765644
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2212n100
Supporting Variantsnssv3539477, nssv3713580, nssv3539475, nssv3713579, nssv3539476, nssv3713578, nssv3539478
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1, NF1P2, POTEB, POTEB2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042974
Frequency
Sample Size11257
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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