A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014623



Internal ID19103841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196832642..196923816hg38UCSC Ensembl
Innerchr1:196801772..196892946hg19UCSC Ensembl
Innerchr1:195068395..195159569hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3891175
hg1991175
hg1891175
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv551n100
Supporting Variantsnssv3498588, nssv3495672
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)nsv1014623
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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