A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011111



Internal ID19100328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:212251896..212314015hg38UCSC Ensembl
Innerchr2:213116621..213178740hg19UCSC Ensembl
Innerchr2:212824866..212886985hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3862120
hg1962120
hg1862120
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3729341
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)nsv1011111
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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