A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv736842



Internal ID15684112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:212158952..212703560hg38UCSC Ensembl
Innerchr1:212332294..212876902hg19UCSC Ensembl
Innerchr1:210398917..210943525hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38544609
hg19544609
hg18544609
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv549139
Supporting Variants
Samples
Known GenesATF3, BATF3, FAM71A, NENF, PPP2R5A, SNORA16B, TMEM206
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv736842
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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