A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999295



Internal ID19158831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:174488394..174627823hg38UCSC Ensembl
Innerchr1:174457532..174596961hg19UCSC Ensembl
Innerchr1:172724155..172863584hg18UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38139430
hg19139430
hg18139430
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3496901, nssv3494603
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)nsv999295
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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