A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14250112



Internal ID21307881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:175960543..176223481hg38UCSC Ensembl
Outerchr5:175946505..176234121hg38UCSC Ensembl
Innerchr5:175387546..175650484hg19UCSC Ensembl
Outerchr5:175373508..175661124hg19UCSC Ensembl
Innerchr5:175320152..175583090hg18UCSC Ensembl
Outerchr5:175306114..175593730hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38287617
hg19287617
hg18287617
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170145
Supporting Variants
SamplesNGO_38
Known GenesFAM153B, LOC100507387, LOC100996385, LOC643201, THOC3
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14250112
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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