A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv712049



Internal ID15659319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:28208722..28624350hg38UCSC Ensembl
Innerchr1:28535233..28950862hg19UCSC Ensembl
Innerchr1:28407820..28823449hg18UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38415629
hg19415630
hg18415630
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545916
Supporting Variants
Samples
Known GenesATPIF1, DNAJC8, MED18, PHACTR4, RAB42, RCC1, SESN2, SNHG12, SNHG3, SNORA16A, SNORA44, SNORA61, SNORD99, TAF12, TRNAU1AP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv712049
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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