A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002217



Internal ID18744749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9255788..9339568hg38UCSC Ensembl
Innerchr1:9315847..9399627hg19UCSC Ensembl
Innerchr1:9238434..9322214hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3883781
hg1983781
hg1883781
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv16n100
Supporting Variantsnssv3479423, nssv3478008
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)nsv1002217
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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