A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054059



Internal ID18796590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:75260851..75382941hg38UCSC Ensembl
Innerchr12:75654631..75776721hg19UCSC Ensembl
Innerchr12:73940898..74062988hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38122091
hg19122091
hg18122091
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524641
Samples
Known GenesCAPS2, GLIPR1L1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054059
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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