A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv798866



Internal ID15746136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:76052528..76072853hg38UCSC Ensembl
Innerchr12:76446308..76466633hg19UCSC Ensembl
Innerchr12:74732575..74752900hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3820326
hg1920326
hg1820326
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559423
Supporting Variants
Samples
Known GenesNAP1L1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv798866
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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