A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557317



Internal ID16344726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7860389..7963425hg38UCSC Ensembl
Innerchr12:8012985..8116021hg19UCSC Ensembl
Innerchr12:7904252..8007288hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38103037
hg19103037
hg18103037
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2335n54
Supporting Variantsnssv787409
Samples
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557317
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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