A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010742



Internal ID18753274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:59538920..59592595hg38UCSC Ensembl
Innerchr1:60004592..60058267hg19UCSC Ensembl
Innerchr1:59777180..59830855hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg3853676
hg1953676
hg1853676
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv168n100
Supporting Variantsnssv3477912, nssv3477230, nssv3465420, nssv3701238
Samples
Known GenesFGGY
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010742
Frequency
Sample Size29084
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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