A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999866



Internal ID19159402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196798270..196832930hg38UCSC Ensembl
Innerchr1:196767400..196802060hg19UCSC Ensembl
Innerchr1:195034023..195068683hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3834661
hg1934661
hg1834661
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3496701, nssv3502687, nssv3501123
Samples
Known GenesCFHR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999866
Frequency
Sample Size11257
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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