A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14245898



Internal ID21310996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196761905..196832942hg38UCSC Ensembl
Outerchr1:196758720..196840786hg38UCSC Ensembl
Innerchr1:196731035..196802072hg19UCSC Ensembl
Outerchr1:196727850..196809916hg19UCSC Ensembl
Innerchr1:194997658..195068695hg18UCSC Ensembl
Outerchr1:194994473..195076539hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3882067
hg1982067
hg1882067
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170002
Supporting Variants
SamplesPML_2
Known GenesCFHR1, CFHR3
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14245898
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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