A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003940



Internal ID19093157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9266587..9339568hg38UCSC Ensembl
Innerchr1:9326646..9399627hg19UCSC Ensembl
Innerchr1:9249233..9322214hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3872982
hg1972982
hg1872982
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv17n100
Supporting Variantsnssv3474790, nssv3470511
Samples
Known GenesH6PD, SPSB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003940
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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