A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004168



Internal ID18746699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:153115733..153253557hg38UCSC Ensembl
Innerchr1:153088209..153226033hg19UCSC Ensembl
Innerchr1:151354833..151492657hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38137825
hg19137825
hg18137825
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3487712
Samples
Known GenesLELP1, PRR9, SPRR2C, SPRR2G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004168
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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