A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14245204



Internal ID21306398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:170172705..170206806hg38UCSC Ensembl
Outerchr2:170172575..170207929hg38UCSC Ensembl
Innerchr2:171029215..171063316hg19UCSC Ensembl
Outerchr2:171029085..171064439hg19UCSC Ensembl
Innerchr2:170737461..170771562hg18UCSC Ensembl
Outerchr2:170737331..170772685hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3835355
hg1935355
hg1835355
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169822
Supporting Variants
SamplesNGO_27
Known GenesMYO3B
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14245204
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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