A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537744



Internal ID15159515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:41482073..41505541hg38UCSC Ensembl
Innerchr1:41947744..41971212hg19UCSC Ensembl
Innerchr1:41720331..41743799hg18UCSC Ensembl
Innerchr1:41616837..41640305hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3823469
hg1923469
hg1823469
hg1723469
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461350
Supporting Variants
SamplesHGDP00433
Known GenesEDN2
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)nssv537744
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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