A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012436



Internal ID18754969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:235860657..236648100hg38UCSC Ensembl
Innerchr1:236023957..236811400hg19UCSC Ensembl
Innerchr1:234090580..234878023hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38787444
hg19787444
hg18787444
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3496317
Samples
Known GenesEDARADD, ERO1LB, GPR137B, HEATR1, LGALS8, LGALS8-AS1, LYST, NID1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012436
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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