A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832349



Internal ID6158073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:21749093..21930695hg19UCSC Ensembl
Outerchr12:21640360..21821962hg18UCSC Ensembl
Outerchr12:21640360..21821962hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv1449722, nssv1449723, nssv1449724, nssv1449725, nssv1449721
Samples
Known GenesGYS2, KCNJ8, LDHB
Method
Analysis
PlatformSMRT Whole Genome Tile Path BAC CGH Array
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)nsv832349
Frequency
Sample Size95
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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