A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004279



Internal ID18746810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32245383..32318300hg38UCSC Ensembl
Innerchr2:32470452..32543369hg19UCSC Ensembl
Innerchr2:32323956..32396873hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3872918
hg1972918
hg1872918
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3748n100
Supporting Variantsnssv3579154
Samples
Known GenesNLRC4, YIPF4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004279
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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