A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14250093



Internal ID21305402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76443274..76696439hg38UCSC Ensembl
Outerchr7:76426530..76696440hg38UCSC Ensembl
Innerchr7:76072591..76325756hg19UCSC Ensembl
Outerchr7:76055847..76325757hg19UCSC Ensembl
Innerchr7:75910527..76163692hg18UCSC Ensembl
Outerchr7:75893783..76163693hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38269911
hg19269911
hg18269911
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170160
Supporting Variants
SamplesNGO_20
Known GenesDTX2, FDPSP2, LOC100133091, POMZP3, UPK3B, ZP3
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14250093
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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