A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169744



Internal ID21313555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:78324847..79203502hg38UCSC Ensembl
Outerchr2:78319793..79210423hg38UCSC Ensembl
Innerchr2:78551973..79430628hg19UCSC Ensembl
Outerchr2:78546919..79437549hg19UCSC Ensembl
Innerchr2:78405481..79284136hg18UCSC Ensembl
Outerchr2:78400427..79291057hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38890631
hg19890631
hg18890631
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14246555, nssv14247584, nssv14250485, nssv14251140, nssv14251095
SamplesNGO_27, MLY_12, NGO_52
Known GenesREG1A, REG1B, REG1P, REG3A, REG3G
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169744
Frequency
Sample Size93
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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