A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14242272



Internal ID21306062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143521875..143870966hg38UCSC Ensembl
Outerchr7:143521765..143875073hg38UCSC Ensembl
Innerchr7:143218968..143568059hg19UCSC Ensembl
Outerchr7:143218858..143572166hg19UCSC Ensembl
Innerchr7:142929090..143198992hg18UCSC Ensembl
Outerchr7:142928980..143203099hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38353309
hg19353309
hg18274120
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169919
Supporting Variants
SamplesNGO_25
Known GenesCTAGE15, CTAGE6, EPHA1-AS1, FAM115A, FAM115C, LOC154761
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14242272
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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