A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002597



Internal ID19091814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196854175..196940503hg38UCSC Ensembl
Innerchr1:196823305..196909633hg19UCSC Ensembl
Innerchr1:195089928..195176256hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3886329
hg1986329
hg1886329
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv553n100
Supporting Variantsnssv3493110, nssv3489213, nssv3493028, nssv3490019, nssv3502043, nssv3502030, nssv3490307, nssv3486337, nssv3494730
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)nsv1002597
Frequency
Sample Size11257
Observed Gain1
Observed Loss8
Observed Complex0
Frequencyn/a


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