A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045030



Internal ID19134249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:24824408..24839687hg38UCSC Ensembl
Innerchr15:25069555..25084834hg19UCSC Ensembl
Innerchr15:22620648..22635927hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3815280
hg1915280
hg1815280
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2472n100
Supporting Variantsnssv3545385, nssv3545384, nssv3545383, nssv3545389, nssv3545388, nssv3545387, nssv3545382, nssv3545386, nssv3545390, nssv3545391, nssv3545381
Samples
Known GenesSNRPN
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045030
Frequency
Sample Size11257
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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