A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14241173



Internal ID21306030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:231583884..231669173hg38UCSC Ensembl
Outerchr2:231576464..231673216hg38UCSC Ensembl
Innerchr2:232448595..232533884hg19UCSC Ensembl
Outerchr2:232441175..232537927hg19UCSC Ensembl
Innerchr2:232156839..232242128hg18UCSC Ensembl
Outerchr2:232149419..232246171hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3896753
hg1996753
hg1896753
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170317
Supporting Variants
SamplesNGO_25
Known GenesC2orf57
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14241173
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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