A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014718



Internal ID19103935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:133309561..133394061hg38UCSC Ensembl
Innerchr2:134067133..134151633hg19UCSC Ensembl
Innerchr2:133783603..133868103hg18UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3884501
hg1984501
hg1884501
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582790
Samples
Known GenesMIR7853, NCKAP5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014718
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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