A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14248270



Internal ID21309451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:159889156..159929666hg38UCSC Ensembl
Outerchr3:159881422..159930743hg38UCSC Ensembl
Innerchr3:159606945..159647455hg19UCSC Ensembl
Outerchr3:159599211..159648532hg19UCSC Ensembl
Innerchr3:161089639..161130149hg18UCSC Ensembl
Outerchr3:161081905..161131226hg18UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg3849322
hg1949322
hg1849322
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169610
Supporting Variants
SamplesNGO_5
Known GenesIL12A-AS1, IQCJ-SCHIP1, SCHIP1
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14248270
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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