A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv614694



Internal ID16402103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:76304935..76306933hg38UCSC Ensembl
Innerchr9:78919851..78921849hg19UCSC Ensembl
Innerchr9:78109671..78111669hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12763n54
Supporting Variantsnssv1137562, nssv1137557, nssv1137547, nssv1137542, nssv1137533, nssv1137520, nssv1137559, nssv1137515, nssv1137511, nssv1137556, nssv1137541, nssv1137569, nssv1137568, nssv1137514, nssv1137508, nssv1137526, nssv1137510, nssv1137517, nssv1137558, nssv1137513, nssv1137545, nssv1137524, nssv1137536, nssv1137540, nssv1137518, nssv1137519, nssv1137516, nssv1137523, nssv1137555, nssv1137552, nssv1137537, nssv1137554, nssv1137521, nssv1137530, nssv1137561, nssv1137548, nssv1137531, nssv1137564, nssv1137549, nssv1137529, nssv1137535, nssv1137509, nssv1137573, nssv1137571, nssv1137572, nssv1137525, nssv1137522, nssv1137567, nssv1137553, nssv1137560, nssv1137551, nssv1137539, nssv1137566, nssv1137538, nssv1137565, nssv1137563, nssv1137527, nssv1137534, nssv1137512, nssv1137532, nssv1137546, nssv1137528, nssv1137570, nssv1137544, nssv1137550, nssv1137543
Samples
Known GenesPCSK5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv614694
Frequency
Sample Size17421
Observed Gain0
Observed Loss66
Observed Complex0
Frequencyn/a


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