A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537000



Internal ID15502306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:10260488..10294102hg38UCSC Ensembl
Innerchr3:10302172..10335786hg19UCSC Ensembl
Innerchr3:10277172..10310786hg18UCSC Ensembl
Innerchr3:10277172..10310786hg17UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg3833615
hg1933615
hg1833615
hg1733615
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460420
Supporting Variants
Samples1780854295_A
Known GenesGHRL, GHRLOS, LINC00852, TATDN2
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)nssv537000
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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