A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005165



Internal ID19094382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:42241559..42300626hg38UCSC Ensembl
Innerchr2:42468699..42527766hg19UCSC Ensembl
Innerchr2:42322203..42381270hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3859068
hg1959068
hg1859068
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3581571
Samples
Known GenesEML4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005165
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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