A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14250485



Internal ID21309775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:78324847..79041839hg38UCSC Ensembl
Outerchr2:78319793..79043374hg38UCSC Ensembl
Innerchr2:78551973..79268965hg19UCSC Ensembl
Outerchr2:78546919..79270500hg19UCSC Ensembl
Innerchr2:78405481..79122473hg18UCSC Ensembl
Outerchr2:78400427..79124008hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38723582
hg19723582
hg18723582
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169744
Supporting Variants
SamplesNGO_52
Known GenesREG3G
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14250485
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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