A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010811



Internal ID19100028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:211485916..211551490hg38UCSC Ensembl
Innerchr2:212350641..212416215hg19UCSC Ensembl
Innerchr2:212058886..212124460hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3865575
hg1965575
hg1865575
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4165n100
Supporting Variantsnssv3585618, nssv3585617
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)nsv1010811
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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