A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004283



Internal ID19093500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:75215506..75278075hg38UCSC Ensembl
Innerchr2:75442632..75505201hg19UCSC Ensembl
Innerchr2:75296140..75358709hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3862570
hg1962570
hg1862570
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3731981
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004283
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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