A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017604



Internal ID19106821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39378072..39522136hg38UCSC Ensembl
Innerchr8:39235591..39379655hg19UCSC Ensembl
Innerchr8:39354748..39498812hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38144065
hg19144065
hg18144065
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7170n100
Supporting Variantsnssv3757908, nssv3684704, nssv3684654, nssv3684684, nssv3684699, nssv3684709, nssv3684701, nssv3684667, nssv3684698, nssv3684693, nssv3684665, nssv3684660, nssv3684678, nssv3684657, nssv3684642, nssv3684639, nssv3757909, nssv3684688, nssv3684685, nssv3684647, nssv3684711, nssv3684646, nssv3684632, nssv3684683, nssv3684655, nssv3684641, nssv3757906, nssv3757911, nssv3684695, nssv3684681, nssv3684664, nssv3684644, nssv3757905, nssv3684661, nssv3684636, nssv3684634, nssv3684663, nssv3684652, nssv3684648, nssv3684692, nssv3684650, nssv3684653, nssv3684696, nssv3684638, nssv3684686, nssv3684714, nssv3684669, nssv3684675, nssv3684637, nssv3684707, nssv3684680, nssv3684643, nssv3684712, nssv3684640, nssv3684710, nssv3757904, nssv3684672, nssv3684670, nssv3757910, nssv3684682, nssv3684713, nssv3684658, nssv3684715, nssv3684635, nssv3684705, nssv3684631, nssv3757912, nssv3757903, nssv3684702, nssv3684687, nssv3684677, nssv3684633, nssv3684690, nssv3684645, nssv3684630, nssv3684659, nssv3684689, nssv3684668, nssv3684706, nssv3684697, nssv3684656, nssv3684649, nssv3684691, nssv3684708, nssv3684703, nssv3684674, nssv3684662, nssv3684694, nssv3757907, nssv3684651, nssv3684629, nssv3684671, nssv3684679, nssv3684666, nssv3684700, nssv3684676, nssv3684673
Samples
Known GenesADAM3A, ADAM5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017604
Frequency
Sample Size11257
Observed Gain95
Observed Loss2
Observed Complex0
Frequencyn/a


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