A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003728



Internal ID19092946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:76317328..76359573hg38UCSC Ensembl
Innerchr2:76544454..76586699hg19UCSC Ensembl
Innerchr2:76397962..76440207hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3842246
hg1942246
hg1842246
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3873n100
Supporting Variantsnssv3582010, nssv3582011, nssv3731984, nssv3731985, nssv3582009
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)nsv1003728
Frequency
Sample Size11257
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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