A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557261



Internal ID15997984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6839304..6924660hg38UCSC Ensembl
Innerchr12:6948468..7033823hg19UCSC Ensembl
Innerchr12:6818729..6904084hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3885357
hg1985356
hg1885356
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv787257
Samples
Known GenesATN1, CDCA3, DSTNP2, ENO2, GNB3, LEPREL2, LRRC23, RPL13P5, SPSB2, TPI1, USP5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557261
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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