A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004295



Internal ID19093512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161623061..161668399hg38UCSC Ensembl
Innerchr1:161592851..161638189hg19UCSC Ensembl
Innerchr1:159859475..159904813hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3845339
hg1945339
hg1845339
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv452n100
Supporting Variantsnssv3704793, nssv3501424, nssv3704794, nssv3494664, nssv3482868
Samples
Known GenesFCGR2B, FCGR3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004295
Frequency
Sample Size11257
Observed Gain3
Observed Loss2
Observed Complex0
Frequencyn/a


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