A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169726



Internal ID21313537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:34234809..35187685hg38UCSC Ensembl
Outerchr7:34229936..35202610hg38UCSC Ensembl
Innerchr7:34274421..35227297hg19UCSC Ensembl
Outerchr7:34269548..35242222hg19UCSC Ensembl
Innerchr7:34240946..35193822hg18UCSC Ensembl
Outerchr7:34236073..35208747hg18UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg38972675
hg19972675
hg18972675
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14246853, nssv14243516
SamplesPML_3, NGO_14
Known GenesDPY19L1, DPY19L2P1, NPSR1, NPSR1-AS1, TBX20
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169726
Frequency
Sample Size93
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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