A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040537



Internal ID19129756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20359322..20538504hg38UCSC Ensembl
Innerchr15:20564575..20743782hg19UCSC Ensembl
Innerchr15:18824589..19003796hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38179183
hg19179208
hg18179208
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2243n100
Supporting Variantsnssv3537545, nssv3537548, nssv3537547, nssv3537544, nssv3537543, nssv3713782, nssv3537542, nssv3537546
Samples
Known GenesGOLGA6L6, HERC2P3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040537
Frequency
Sample Size11257
Observed Gain6
Observed Loss2
Observed Complex0
Frequencyn/a


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