A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008939



Internal ID18751470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:216514942..216539228hg38UCSC Ensembl
Innerchr1:216688284..216712570hg19UCSC Ensembl
Innerchr1:214754907..214779193hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3824287
hg1924287
hg1824287
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3489745, nssv3498340
Samples
Known GenesESRRG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008939
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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