A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998979



Internal ID18811829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:212856472..212899671hg38UCSC Ensembl
Innerchr1:213029814..213073013hg19UCSC Ensembl
Innerchr1:211096437..211139636hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3843200
hg1943200
hg1843200
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv572n100
Supporting Variantsnssv3499710
Samples
Known GenesFLVCR1, FLVCR1-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998979
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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