A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002444



Internal ID19091661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196832300..196932623hg38UCSC Ensembl
Innerchr1:196801430..196901753hg19UCSC Ensembl
Innerchr1:195068053..195168376hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38100324
hg19100324
hg18100324
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv544n100
Supporting Variantsnssv3500631, nssv3496847, nssv3485809, nssv3488385
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)nsv1002444
Frequency
Sample Size11257
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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