A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527531



Internal ID15108138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:42151361..42169834hg38UCSC Ensembl
Innerchr1:42617032..42635505hg19UCSC Ensembl
Innerchr1:42389619..42408092hg18UCSC Ensembl
Innerchr1:42286125..42304598hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3818474
hg1918474
hg1818474
hg1718474
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703990
Samples
Known GenesGUCA2A, GUCA2B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527531
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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