A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055597



Internal ID19144816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42471892..42547624hg38UCSC Ensembl
Innerchr22:42867898..42943630hg19UCSC Ensembl
Innerchr22:41197842..41273574hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3875733
hg1975733
hg1875733
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3590818
Samples
Known GenesRRP7A, SERHL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055597
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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