A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705315



Internal ID15441967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:174226491..174250260hg38UCSC Ensembl
Innerchr1:174195629..174219398hg19UCSC Ensembl
Innerchr1:172462252..172486021hg18UCSC Ensembl
Innerchr1:170927286..170951055hg17UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3823770
hg1923770
hg1823770
hg1723770
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528675
Supporting Variants
Samples
Known GenesRABGAP1L
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705315
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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