A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557699



Internal ID16345108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20073947..20120259hg38UCSC Ensembl
Innerchr12:20226881..20273193hg19UCSC Ensembl
Innerchr12:20118148..20164460hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3846313
hg1946313
hg1846313
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv789509
Samples
Known GenesLOC100506393
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557699
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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