A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053723



Internal ID18796254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:32247324..32567645hg38UCSC Ensembl
Innerchr15:32539525..32859846hg19UCSC Ensembl
Innerchr15:30326817..30647138hg18UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38320322
hg19320322
hg18320322
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2544n100
Supporting Variantsnssv3547820, nssv3547822, nssv3721644, nssv3721645, nssv3721643, nssv3547821, nssv3721646
Samples
Known GenesGOLGA8K, GOLGA8O, LOC100996255, ULK4P1, ULK4P2, ULK4P3, WHAMMP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053723
Frequency
Sample Size29084
Observed Gain2
Observed Loss5
Observed Complex0
Frequencyn/a


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