A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013164



Internal ID19102382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:211487947..211551490hg38UCSC Ensembl
Innerchr2:212352672..212416215hg19UCSC Ensembl
Innerchr2:212060917..212124460hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3863544
hg1963544
hg1863544
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4165n100
Supporting Variantsnssv3585621, nssv3585620, nssv3729339
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)nsv1013164
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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