A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067507



Internal ID19156726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15574642..15922838hg38UCSC Ensembl
Innerchr22:16055171..16403321hg19UCSC Ensembl
Innerchr22:14435171..14783321hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38348197
hg19348151
hg18348151
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4451n100
Supporting Variantsnssv3587640, nssv3733509, nssv3587703, nssv3733518, nssv3587669, nssv3733524, nssv3587693, nssv3587686, nssv3733514, nssv3587705, nssv3733512, nssv3587650, nssv3587666, nssv3587665, nssv3587684, nssv3587630, nssv3733515, nssv3587671, nssv3587654, nssv3587643, nssv3733510, nssv3587664, nssv3587660, nssv3587657, nssv3587674, nssv3587680, nssv3733525, nssv3587647, nssv3587667, nssv3587707, nssv3587648, nssv3587631, nssv3587715, nssv3587656, nssv3587646, nssv3587641, nssv3587673, nssv3587697, nssv3587649, nssv3587700, nssv3587694, nssv3587663, nssv3587676, nssv3587638, nssv3587668, nssv3587639, nssv3733522, nssv3587628, nssv3587645, nssv3733517, nssv3587712, nssv3733508, nssv3733507, nssv3587702, nssv3587690, nssv3587709, nssv3587713, nssv3587659, nssv3587636, nssv3733513, nssv3733521, nssv3587711, nssv3587691, nssv3587662, nssv3587675, nssv3733516, nssv3587692, nssv3587635, nssv3587678, nssv3733520, nssv3733523, nssv3587679, nssv3587655, nssv3587633, nssv3587637, nssv3587714, nssv3587658, nssv3587642, nssv3733519, nssv3587672, nssv3587632, nssv3587653, nssv3587706, nssv3587696, nssv3587699, nssv3733526, nssv3587701, nssv3587716, nssv3733527, nssv3587677, nssv3587708, nssv3587651, nssv3587652, nssv3587687, nssv3587681, nssv3587683, nssv3587634, nssv3587685, nssv3587695, nssv3733511, nssv3587704, nssv3587670, nssv3587661, nssv3587629, nssv3587644, nssv3587710, nssv3733505, nssv3587682, nssv3733506, nssv3587689, nssv3587698, nssv3587688
Samples
Known GenesBMS1P17, BMS1P18, POTEH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067507
Frequency
Sample Size11257
Observed Gain107
Observed Loss5
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer