A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044940



Internal ID19134159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:25054112..25079530hg38UCSC Ensembl
Innerchr15:25299259..25324677hg19UCSC Ensembl
Innerchr15:22850352..22875770hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3825419
hg1925419
hg1825419
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2475n100
Supporting Variantsnssv3545412, nssv3545415, nssv3545414, nssv3545411, nssv3545417, nssv3545419, nssv3545416, nssv3545409, nssv3545413, nssv3545418, nssv3545410
Samples
Known GenesSNORD116-10, SNORD116-11, SNORD116-12, SNORD116-13, SNORD116-2, SNORD116-3, SNORD116-4, SNORD116-5, SNORD116-6, SNORD116-7, SNORD116-8, SNORD116-9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044940
Frequency
Sample Size11257
Observed Gain2
Observed Loss9
Observed Complex0
Frequencyn/a


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