A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600014



Internal ID16387423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:151410812..151413016hg38UCSC Ensembl
Innerchr5:150790373..150792577hg19UCSC Ensembl
Innerchr5:150770566..150772770hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg382205
hg192205
hg182205
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10123n54
Supporting Variantsnssv1043573, nssv1043653, nssv1043610, nssv1043588, nssv1043617, nssv1043643, nssv1043621, nssv1043606, nssv1043579, nssv1043607, nssv1043638, nssv1043562, nssv1043640, nssv1043597, nssv1043577, nssv1043563, nssv1043598, nssv1043564, nssv1043651, nssv1043613, nssv1043585, nssv1043603, nssv1043590, nssv1043557, nssv1043581, nssv1043624, nssv1043641, nssv1043594, nssv1043591, nssv1043574, nssv1043616, nssv1043642, nssv1043635, nssv1043583, nssv1043578, nssv1043650, nssv1043586, nssv1043646, nssv1043572, nssv1043630, nssv1043629, nssv1043605, nssv1043622, nssv1043652, nssv1043644, nssv1043626, nssv1043634, nssv1043637, nssv1043632, nssv1043575, nssv1043593, nssv1043580, nssv1043576, nssv1043623, nssv1043582, nssv1043609, nssv1043600, nssv1043565, nssv1043649, nssv1043587, nssv1043611, nssv1043589, nssv1043595, nssv1043647, nssv1043596, nssv1043639, nssv1043566, nssv1043584, nssv1043560, nssv1043633, nssv1043558, nssv1043628, nssv1043569, nssv1043608, nssv1043568, nssv1043559, nssv1043615, nssv1043636, nssv1043570, nssv1043619, nssv1043612, nssv1043599, nssv1043618, nssv1043614, nssv1043625, nssv1043592, nssv1043648, nssv1043567, nssv1043627, nssv1043602, nssv1043620, nssv1043571, nssv1043631, nssv1043561, nssv1043645, nssv1043604, nssv1043601
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600014
Frequency
Sample Size17421
Observed Gain0
Observed Loss97
Observed Complex0
Frequencyn/a


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