A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012848



Internal ID18755380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:59538920..59655118hg38UCSC Ensembl
Innerchr1:60004592..60120790hg19UCSC Ensembl
Innerchr1:59777180..59893378hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38116199
hg19116199
hg18116199
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3701239
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)nsv1012848
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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