A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998427



Internal ID19157963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:211497409..211549857hg38UCSC Ensembl
Innerchr2:212362134..212414582hg19UCSC Ensembl
Innerchr2:212070379..212122827hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3852449
hg1952449
hg1852449
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4165n100
Supporting Variantsnssv3585622
Samples
Known GenesERBB4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998427
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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