A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003949



Internal ID18746480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:204798196..204837351hg38UCSC Ensembl
Innerchr1:204767324..204806479hg19UCSC Ensembl
Innerchr1:203033947..203073102hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3839156
hg1939156
hg1839156
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3486003
Samples
Known GenesNFASC
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003949
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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