A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001718



Internal ID19090935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:212182308..212291260hg38UCSC Ensembl
Innerchr2:213047033..213155985hg19UCSC Ensembl
Innerchr2:212755278..212864230hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38108953
hg19108953
hg18108953
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3585627
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)nsv1001718
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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