A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512750



Internal ID15852172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:174937656..174938069hg38UCSC Ensembl
Outerchr1:174906793..174907206hg19UCSC Ensembl
Outerchr1:173173416..173173829hg18UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg381351
hg191351
hg181351
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625379
Samples1
Known GenesRABGAP1L
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512750
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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