A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1156176



Internal ID22086681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68494770..68620261hg38UCSC Ensembl
Outerchr4:68478894..68623617hg38UCSC Ensembl
Innerchr4:69360488..69485979hg19UCSC Ensembl
Outerchr4:69344612..69489335hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38144724
hg19144724
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv218n97
Supporting Variantsnssv4016633, nssv4016684, nssv4016635, nssv4016698, nssv4016654, nssv4016672, nssv4016697, nssv4016679, nssv4016685, nssv4016621, nssv4016678, nssv4016602, nssv4016607, nssv4016677, nssv4016620, nssv4016609, nssv4016668, nssv4016670, nssv4016696, nssv4016650, nssv4016645, nssv4016616, nssv4016666, nssv4016676, nssv4016618, nssv4016612, nssv4016673, nssv4016657, nssv4016687, nssv4016695, nssv4016625, nssv4016629, nssv4016683, nssv4016630, nssv4016624, nssv4016604, nssv4016662, nssv4016664, nssv4016688, nssv4016614, nssv4016661, nssv4016632, nssv4016653, nssv4016637, nssv4016681, nssv4016689, nssv4016693, nssv4016626, nssv4016660, nssv4016608, nssv4016622, nssv4016606, nssv4016694, nssv4016605, nssv4016686, nssv4016659, nssv4016627, nssv4016610, nssv4016669, nssv4016643, nssv4016619, nssv4016603, nssv4016680, nssv4016671, nssv4016675, nssv4016663, nssv4016613, nssv4016647, nssv4016623, nssv4016652, nssv4016641, nssv4016674, nssv4016665, nssv4016628, nssv4016656, nssv4016651, nssv4016692, nssv4016640, nssv4016690, nssv4016617, nssv4016631, nssv4016646, nssv4016634, nssv4016667, nssv4016644, nssv4016682, nssv4016648, nssv4016639, nssv4016655, nssv4016649, nssv4016636, nssv4016638, nssv4016615, nssv4016611, nssv4016658, nssv4016691, nssv4016642
Samples
Known GenesTMPRSS11E, UGT2B17
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nsv1156176
Frequency
Sample Size131
Observed Gain0
Observed Loss97
Observed Complex0
Frequencyn/a


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