A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004491



Internal ID19093709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43264046..43328666hg38UCSC Ensembl
Innerchr2:43491185..43555805hg19UCSC Ensembl
Innerchr2:43344689..43409309hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3864621
hg1964621
hg1864621
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3797n100
Supporting Variantsnssv3725985, nssv3725986, nssv3581576, nssv3581577
Samples
Known GenesTHADA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004491
Frequency
Sample Size11257
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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