A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040028



Internal ID18782559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:43600874..43700448hg38UCSC Ensembl
Innerchr15:43893072..43992646hg19UCSC Ensembl
Innerchr15:41680364..41779938hg18UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg3899575
hg1999575
hg1899575
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2584n100
Supporting Variantsnssv3552317, nssv3716715, nssv3552318
Samples
Known GenesCATSPER2, CKMT1A, RNU6-28P, STRC
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040028
Frequency
Sample Size29084
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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