A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537634



Internal ID15162822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:8253057..8318399hg38UCSC Ensembl
Innerchr4:8254784..8320126hg19UCSC Ensembl
Innerchr4:8305684..8371026hg18UCSC Ensembl
Innerchr4:8372855..8438197hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3865343
hg1965343
hg1865343
hg1765343
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461218
Supporting Variants
SamplesHGDP01023
Known GenesHTRA3
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)nssv537634
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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