A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013738



Internal ID18756270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:230312141..230393888hg38UCSC Ensembl
Innerchr2:231176856..231258603hg19UCSC Ensembl
Innerchr2:230885100..230966847hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3881748
hg1981748
hg1881748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4180n100
Supporting Variantsnssv3586864
Samples
Known GenesSP140, SP140L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013738
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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