A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560028



Internal ID16347437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:101712350..101713222hg38UCSC Ensembl
Innerchr12:102106128..102107000hg19UCSC Ensembl
Innerchr12:100630259..100631131hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38873
hg19873
hg18873
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv801780, nssv801779, nssv801781, nssv801778, nssv801776, nssv801777
Samples
Known GenesCHPT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560028
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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