A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3485054



Internal ID19072695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196854175..196897339hg38UCSC Ensembl
Innerchr1:196823305..196866469hg19UCSC Ensembl
Innerchr1:195089928..195133092hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3843165
hg1943165
hg1843165
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1000717
Supporting Variants
Samples
Known GenesCFHR4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3485054
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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