A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000639



Internal ID19089856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196832642..196916555hg38UCSC Ensembl
Innerchr1:196801772..196885685hg19UCSC Ensembl
Innerchr1:195068395..195152308hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3883914
hg1983914
hg1883914
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv544n100
Supporting Variantsnssv3500721
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)nsv1000639
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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