A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040134



Internal ID19129353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31849350..31910068hg38UCSC Ensembl
Innerchr12:32002284..32063002hg19UCSC Ensembl
Innerchr12:31893551..31954269hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3860719
hg1960719
hg1860719
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1426n100
Supporting Variantsnssv3513246, nssv3509564, nssv3712409, nssv3712400, nssv3505125, nssv3514256, nssv3516578, nssv3522299, nssv3712407, nssv3515060, nssv3509705, nssv3517455, nssv3516519, nssv3517723, nssv3517617, nssv3711317, nssv3712406, nssv3509326, nssv3506094, nssv3519794, nssv3522680, nssv3513909, nssv3522054, nssv3503865, nssv3521152, nssv3513345, nssv3512199, nssv3503440, nssv3503010, nssv3509458, nssv3511440, nssv3514218, nssv3506235, nssv3507386, nssv3520736, nssv3513003, nssv3711313, nssv3507461, nssv3514997, nssv3519214, nssv3510109, nssv3711320, nssv3518150, nssv3711314, nssv3711322, nssv3521986, nssv3511330, nssv3518432, nssv3508586, nssv3711315, nssv3511003, nssv3507206, nssv3711318, nssv3510801, nssv3712405, nssv3517733, nssv3516466, nssv3505458, nssv3712411, nssv3517552, nssv3509688, nssv3711316, nssv3519327, nssv3513056, nssv3505618, nssv3513254, nssv3517548, nssv3711319, nssv3515210, nssv3505773, nssv3521229, nssv3509092, nssv3712402, nssv3505993, nssv3508103, nssv3503489, nssv3503032, nssv3514009, nssv3507487, nssv3509689, nssv3522179, nssv3712404, nssv3511774, nssv3507726, nssv3506890, nssv3508411, nssv3521830, nssv3517392, nssv3712412, nssv3506606, nssv3517090, nssv3506112, nssv3512971, nssv3506834, nssv3712401, nssv3521888, nssv3516974, nssv3711312, nssv3712410, nssv3517629, nssv3712408, nssv3516615, nssv3505240, nssv3711321, nssv3514602, nssv3521573, nssv3520828, nssv3503436, nssv3712403
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040134
Frequency
Sample Size11257
Observed Gain109
Observed Loss0
Observed Complex0
Frequencyn/a


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