A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515938



Internal ID15096545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:154673..194154hg38UCSC Ensembl
Innerchr12:263839..303320hg19UCSC Ensembl
Innerchr12:134100..173581hg18UCSC Ensembl
Innerchr12:134100..173581hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3839482
hg1939482
hg1839482
hg1739482
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv87n21
Supporting Variantsnssv691971, nssv700135, nssv662945, nssv665383, nssv681823, nssv691828, nssv680959, nssv697746, nssv678591, nssv668949, nssv666248, nssv657683
Samples
Known GenesIQSEC3, SLC6A12
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515938
Frequency
Sample Size2026
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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