A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558897



Internal ID15999620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52009326..52049869hg38UCSC Ensembl
Innerchr12:52403110..52443653hg19UCSC Ensembl
Innerchr12:50689377..50729920hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3840544
hg1940544
hg1840544
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2629n54
Supporting Variantsnssv795964
Samples
Known GenesGRASP, NR4A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558897
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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