A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14250122



Internal ID21301675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143538619..143942271hg38UCSC Ensembl
Outerchr1:143538619..144572337hg38UCSC Ensembl
Innerchr1:149024802..149436842hg19UCSC Ensembl
Outerchr1:148953996..149521840hg19UCSC Ensembl
Innerchr1:147291426..147703466hg18UCSC Ensembl
Outerchr1:147220620..147788464hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381033719
hg19567845
hg18567845
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169781
Supporting Variants
SamplesMLY_1
Known GenesFCGR1C, LOC101929780, LOC388692, NBPF23
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14250122
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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