A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559649



Internal ID16000372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:84863666..84936717hg38UCSC Ensembl
Innerchr12:85257445..85330496hg19UCSC Ensembl
Innerchr12:83781576..83854627hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3873052
hg1973052
hg1873052
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2762n54
Supporting Variantsnssv799944, nssv799942, nssv799941, nssv799943
Samples
Known GenesSLC6A15
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559649
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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