A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008993



Internal ID19098211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:174210881..174362220hg38UCSC Ensembl
Innerchr1:174180019..174331358hg19UCSC Ensembl
Innerchr1:172446642..172597981hg18UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38151340
hg19151340
hg18151340
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3704819
Samples
Known GenesRABGAP1L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008993
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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