A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007129



Internal ID18749660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:212863902..212909919hg38UCSC Ensembl
Innerchr1:213037244..213083261hg19UCSC Ensembl
Innerchr1:211103867..211149884hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3846018
hg1946018
hg1846018
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3492371
Samples
Known GenesFLVCR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007129
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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