A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169765



Internal ID21313576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:171403471..171440163hg38UCSC Ensembl
Outerchr2:171397246..171442178hg38UCSC Ensembl
Innerchr2:172259981..172296673hg19UCSC Ensembl
Outerchr2:172253756..172298688hg19UCSC Ensembl
Innerchr2:171968227..172004919hg18UCSC Ensembl
Outerchr2:171962002..172006934hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3844933
hg1944933
hg1844933
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14244908
SamplesNGO_32
Known GenesDCAF17, METTL8
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169765
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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