A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515974



Internal ID15096581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31048783..31299816hg38UCSC Ensembl
Innerchr12:31201717..31452750hg19UCSC Ensembl
Innerchr12:31092984..31344017hg18UCSC Ensembl
Innerchr12:31092984..31344017hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38251034
hg19251034
hg18251034
hg17251034
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv691512, nssv689700, nssv692113, nssv691155, nssv652364, nssv689330, nssv683943, nssv658208, nssv703433, nssv652709, nssv656470, nssv689624, nssv657394, nssv700664, nssv690641, nssv664670, nssv668807, nssv671743, nssv660241, nssv677862, nssv661532, nssv702194, nssv683481, nssv664306, nssv666815, nssv679822, nssv661626, nssv666611, nssv691258, nssv652044, nssv668347, nssv677691, nssv662135, nssv676465, nssv679724, nssv694818, nssv662619, nssv658573, nssv676277, nssv684394, nssv692645, nssv664846, nssv679536, nssv701390, nssv672491, nssv672438, nssv693776, nssv685064
Samples
Known GenesDDX11, DDX11-AS1, FAM60A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515974
Frequency
Sample Size2026
Observed Gain46
Observed Loss2
Observed Complex0
Frequencyn/a


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