A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515574



Internal ID15096181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99401714..99408730hg38UCSC Ensembl
Innerchr12:99795492..99802508hg19UCSC Ensembl
Innerchr12:98319623..98326639hg18UCSC Ensembl
Innerchr12:98297960..98304976hg17UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg387017
hg197017
hg187017
hg177017
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv674406, nssv672842, nssv690979, nssv654991, nssv654205, nssv680318, nssv675791, nssv690643, nssv692594, nssv686258, nssv678710, nssv677892, nssv654440, nssv657157, nssv674527, nssv666315, nssv651864, nssv671685, nssv669171, nssv663183, nssv676579, nssv674603, nssv693401, nssv657547, nssv681188
Samples
Known GenesANKS1B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515574
Frequency
Sample Size2026
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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