A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048065



Internal ID18790596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:32166460..32584771hg38UCSC Ensembl
Innerchr15:32458661..32876972hg19UCSC Ensembl
Innerchr15:30245953..30664264hg18UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38418312
hg19418312
hg18418312
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2544n100
Supporting Variantsnssv3547759, nssv3721623, nssv3547764, nssv3547757, nssv3547756, nssv3547766, nssv3721627, nssv3547772, nssv3721620, nssv3547761, nssv3547775, nssv3721625, nssv3547767, nssv3547760, nssv3547769, nssv3547773, nssv3721624, nssv3547768, nssv3547765, nssv3547771, nssv3547762, nssv3547758, nssv3547770, nssv3721626, nssv3721621, nssv3721622, nssv3547776, nssv3547777, nssv3547774, nssv3547763, nssv3547778
Samples
Known GenesCHRNA7, GOLGA8K, 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)nsv1048065
Frequency
Sample Size29084
Observed Gain2
Observed Loss29
Observed Complex0
Frequencyn/a


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