A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173058



Internal ID15507904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:88885058..88971430hg38UCSC Ensembl
Innerchr1:89350741..89437113hg19UCSC Ensembl
Innerchr1:89123329..89209701hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3886373
hg1986373
hg1886373
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546784
Supporting Variants
Samples1780862212_A
Known GenesCCBL2, GTF2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173058
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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