A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464949



Internal ID15525014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:10630891..10697142hg38UCSC Ensembl
Innerchr1:10690948..10757199hg19UCSC Ensembl
Innerchr1:10613535..10679786hg18UCSC Ensembl
Innerchr1:10625214..10691465hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3866252
hg1966252
hg1866252
hg1766252
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540805
Samples1780862345_A
Known GenesCASZ1
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv464949
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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