A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999020



Internal ID19158556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:87117603..87661069hg38UCSC Ensembl
Innerchr2:87344726..87960588hg19UCSC Ensembl
Innerchr2:87198237..87741703hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38543467
hg19615863
hg18543467
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3892n100
Supporting Variantsnssv3582228, nssv3582224, nssv3582229, nssv3582226, nssv3582230, nssv3582234, nssv3582235, nssv3582233, nssv3582237, nssv3728730, nssv3582232, nssv3582225, nssv3582231, nssv3728728, nssv3582227, nssv3582236, nssv3728729
Samples
Known GenesLINC00152, MIR4435-1, MIR4435-2, MIR4771-1, MIR4771-2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999020
Frequency
Sample Size11257
Observed Gain15
Observed Loss2
Observed Complex0
Frequencyn/a


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