A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557109



Internal ID15997832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:3199130..3200577hg38UCSC Ensembl
Innerchr12:3308296..3309743hg19UCSC Ensembl
Innerchr12:3178557..3180004hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg381448
hg191448
hg181448
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2295n54
Supporting Variantsnssv786734
Samples
Known GenesTSPAN9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557109
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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