A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv539104



Internal ID15155367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:107618878..107646236hg38UCSC Ensembl
Innerchr1:108161500..108188858hg19UCSC Ensembl
Innerchr1:107963023..107990381hg18UCSC Ensembl
Innerchr1:107873542..107900900hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3827359
hg1927359
hg1827359
hg1727359
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv463073
Supporting Variants
Samples1780854103_A
Known GenesVAV3
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)nssv539104
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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