A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3728710



Internal ID19026991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86597058..86678991hg38UCSC Ensembl
Innerchr2:86824181..86906114hg19UCSC Ensembl
Innerchr2:86677692..86759625hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3881934
hg1981934
hg1881934
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1011590
Supporting Variants
Samples
Known GenesRNF103, RNF103-CHMP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3728710
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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