A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3752820



Internal ID18704415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:7106200..7353587hg38UCSC Ensembl
Innerchr7:7145831..7393218hg19UCSC Ensembl
Innerchr7:7112356..7359743hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38247388
hg19247388
hg18247388
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1032974
Supporting Variants
Samples
Known GenesC1GALT1, LOC101927354
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3752820
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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