A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058410



Internal ID19147629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15552149..15922838hg38UCSC Ensembl
Innerchr22:16055171..16425814hg19UCSC Ensembl
Innerchr22:14435171..14805814hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38370690
hg19370644
hg18370644
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4451n100
Supporting Variantsnssv3733533, nssv3587729, nssv3733543, nssv3587791, nssv3587742, nssv3587722, nssv3587784, nssv3733540, nssv3587789, nssv3587756, nssv3587768, nssv3587774, nssv3587746, nssv3587777, nssv3587788, nssv3587751, nssv3587790, nssv3587723, nssv3587783, nssv3733539, nssv3733557, nssv3587795, nssv3587760, nssv3587776, nssv3587758, nssv3587726, nssv3587735, nssv3587781, nssv3587800, nssv3587755, nssv3733546, nssv3587725, nssv3733532, nssv3587737, nssv3733554, nssv3733534, nssv3733538, nssv3587733, nssv3587770, nssv3587747, nssv3587799, nssv3587779, nssv3733544, nssv3587782, nssv3587793, nssv3587734, nssv3733528, nssv3587780, nssv3587753, nssv3733530, nssv3733558, nssv3733547, nssv3733537, nssv3587738, nssv3733555, nssv3587771, nssv3587719, nssv3587762, nssv3587748, nssv3587792, nssv3587785, nssv3587730, nssv3733559, nssv3587787, nssv3587754, nssv3733541, nssv3587759, nssv3587798, nssv3587769, nssv3587718, nssv3587765, nssv3733531, nssv3587750, nssv3587745, nssv3733548, nssv3733552, nssv3587752, nssv3587736, nssv3733550, nssv3587772, nssv3733545, nssv3587775, nssv3587796, nssv3733536, nssv3587740, nssv3587741, nssv3587794, nssv3587778, nssv3733529, nssv3733549, nssv3587786, nssv3733535, nssv3587764, nssv3587731, nssv3587757, nssv3587749, nssv3587717, nssv3587763, nssv3587744, nssv3587720, nssv3587721, nssv3587767, nssv3733556, nssv3587728, nssv3587739, nssv3587761, nssv3587743, nssv3587797, nssv3733553, nssv3733551, nssv3587732, nssv3587724, nssv3587766, nssv3587773, nssv3733542, nssv3587801, nssv3587727
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)nsv1058410
Frequency
Sample Size11257
Observed Gain99
Observed Loss18
Observed Complex0
Frequencyn/a


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