A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560988



Internal ID16001711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132304118..132305527hg38UCSC Ensembl
Innerchr12:132880704..132882113hg19UCSC Ensembl
Innerchr12:131390777..131392186hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381410
hg191410
hg181410
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv805562, nssv805551, nssv805558, nssv805555, nssv805560, nssv805559, nssv805541, nssv805552, nssv805564, nssv805547, nssv805563, nssv805542, nssv805568, nssv805561, nssv805565, nssv805545, nssv805553, nssv805549, nssv805566, nssv805546, nssv805544, nssv805550, nssv805543, nssv805556, nssv805567, nssv805540, nssv805554, nssv805557, nssv805569, nssv805548
Samples
Known GenesGALNT9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560988
Frequency
Sample Size17421
Observed Gain3
Observed Loss27
Observed Complex0
Frequencyn/a


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