A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14242737



Internal ID21310876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196758720..196761904hg38UCSC Ensembl
Outerchr1:196745743..196761905hg38UCSC Ensembl
Innerchr1:196727850..196731034hg19UCSC Ensembl
Outerchr1:196714873..196731035hg19UCSC Ensembl
Innerchr1:194994473..194997657hg18UCSC Ensembl
Outerchr1:194981496..194997658hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3816163
hg1916163
hg1816163
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170002
Supporting Variants
SamplesPML_2
Known GenesCFH
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14242737
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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