A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169553



Internal ID21313786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:72014374..72044359hg38UCSC Ensembl
Outerchr2:72008558..72051830hg38UCSC Ensembl
Innerchr2:72241504..72271489hg19UCSC Ensembl
Outerchr2:72235688..72278960hg19UCSC Ensembl
Innerchr2:72095012..72124997hg18UCSC Ensembl
Outerchr2:72089196..72132468hg18UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3843273
hg1943273
hg1843273
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14245867, nssv14246795, nssv14243731, nssv14240862
SamplesNGO_13, NGO_21, NGO_27, NGO_18
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169553
Frequency
Sample Size93
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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