A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515762



Internal ID15096369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:126285387..126744960hg38UCSC Ensembl
Innerchr12:126769933..127229506hg19UCSC Ensembl
Innerchr12:125335886..125795459hg18UCSC Ensembl
Innerchr12:125294813..125754386hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38459574
hg19459574
hg18459574
hg17459574
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv659629, nssv704380, nssv661670, nssv682569, nssv695313, nssv696305, nssv681867, nssv664706, nssv656138, nssv667106, nssv679852, nssv693028, nssv662267, nssv701139, nssv665473, nssv674629, nssv690339
Samples
Known GenesLINC00943, LINC00944, LOC100128554
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515762
Frequency
Sample Size2026
Observed Gain5
Observed Loss12
Observed Complex0
Frequencyn/a


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