A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14249841



Internal ID21308013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76678456..77083484hg38UCSC Ensembl
Outerchr7:76674193..77091265hg38UCSC Ensembl
Innerchr7:76307773..76712801hg19UCSC Ensembl
Outerchr7:76303510..76720582hg19UCSC Ensembl
Innerchr7:76145709..76550737hg18UCSC Ensembl
Outerchr7:76141446..76558518hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38417073
hg19417073
hg18417073
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170160
Supporting Variants
SamplesNGO_39
Known GenesDTX2P1-UPK3BP1-PMS2P11, LOC100132832
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14249841
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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