A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557614



Internal ID16345023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:15538965..15578810hg38UCSC Ensembl
Innerchr12:15691899..15731744hg19UCSC Ensembl
Innerchr12:15583166..15623011hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3839846
hg1939846
hg1839846
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1176249
Samples1798860192_A
Known GenesPTPRO
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557614
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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