A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14246853



Internal ID21311034
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 Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169726
Supporting Variants
SamplesPML_3
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)nssv14246853
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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