A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557255



Internal ID15997978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6531324..6538371hg38UCSC Ensembl
Innerchr12:6640490..6647537hg19UCSC Ensembl
Innerchr12:6510751..6517798hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg387048
hg197048
hg187048
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv787251
Samples
Known GenesGAPDH, NCAPD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557255
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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