A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169944



Internal ID21314005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:77738395..77769759hg38UCSC Ensembl
Outerchr2:77737781..77774182hg38UCSC Ensembl
Innerchr2:77965521..77996885hg19UCSC Ensembl
Outerchr2:77964907..78001308hg19UCSC Ensembl
Innerchr2:77819029..77850393hg18UCSC Ensembl
Outerchr2:77818415..77854816hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3836402
hg1936402
hg1836402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14243454, nssv14251366, nssv14248200, nssv14247406, nssv14248077, nssv14248396
SamplesSNI_2, SNI_11, NGO_29, NGO_50
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169944
Frequency
Sample Size93
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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