A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3582978



Internal ID18881259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:158217042..158243307hg38UCSC Ensembl
Innerchr2:159073554..159099819hg19UCSC Ensembl
Innerchr2:158781800..158808065hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3826266
hg1926266
hg1826266
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1005075
Supporting Variants
Samples
Known GenesCCDC148, CCDC148-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3582978
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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