A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537565



Internal ID15157242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:39719061..39841226hg38UCSC Ensembl
Innerchr1:40184733..40306898hg19UCSC Ensembl
Innerchr1:39957320..40079485hg18UCSC Ensembl
Innerchr1:39853826..39975991hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38122166
hg19122166
hg18122166
hg17122166
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461117
Supporting Variants
Samples1780862460_A
Known GenesBMP8B, OXCT2, PPIE, TRIT1
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)nssv537565
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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