A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14242786



Internal ID21303984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:157993139..158046206hg38UCSC Ensembl
Outerchr1:157989825..158049472hg38UCSC Ensembl
Innerchr1:157962929..158015996hg19UCSC Ensembl
Outerchr1:157959615..158019262hg19UCSC Ensembl
Innerchr1:156229553..156282620hg18UCSC Ensembl
Outerchr1:156226239..156285886hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3859648
hg1959648
hg1859648
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169678
Supporting Variants
SamplesNGO_1
Known GenesKIRREL
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14242786
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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