A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008748



Internal ID18751279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155219357..155260819hg38UCSC Ensembl
Innerchr1:155189148..155230610hg19UCSC Ensembl
Innerchr1:153455772..153497234hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3841463
hg1941463
hg1841463
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3502200
Samples
Known GenesFAM189B, GBA, GBAP1, SCAMP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008748
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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