A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14245506



Internal ID21303055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196758720..196840786hg38UCSC Ensembl
Outerchr1:196745743..196843377hg38UCSC Ensembl
Innerchr1:196727850..196809916hg19UCSC Ensembl
Outerchr1:196714873..196812507hg19UCSC Ensembl
Innerchr1:194994473..195076539hg18UCSC Ensembl
Outerchr1:194981496..195079130hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3897635
hg1997635
hg1897635
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170002
Supporting Variants
SamplesMLY_3
Known GenesCFH, CFHR1, CFHR3
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14245506
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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