A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010716



Internal ID19099933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196787999..196843388hg38UCSC Ensembl
Innerchr1:196757129..196812518hg19UCSC Ensembl
Innerchr1:195023752..195079141hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3855390
hg1955390
hg1855390
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv538n100
Supporting Variantsnssv3493266, nssv3484603, nssv3493104, nssv3497183
Samples
Known GenesCFHR1, CFHR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010716
Frequency
Sample Size11257
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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