A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041602



Internal ID19130821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:119034410..119061524hg38UCSC Ensembl
Innerchr12:119472215..119499329hg19UCSC Ensembl
Innerchr12:117956598..117983712hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3827115
hg1927115
hg1827115
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1564n100
Supporting Variantsnssv3526078, nssv3526077
Samples
Known GenesSRRM4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1041602
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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