A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461674



Internal ID15175053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:146125920..146222420hg38UCSC Ensembl
Innerchr4:147047072..147143572hg19UCSC Ensembl
Innerchr4:147266522..147363022hg18UCSC Ensembl
Innerchr4:147404677..147501177hg17UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg3896501
hg1996501
hg1896501
hg1796501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538035
Samples1798860336_A
Known GenesLSM6
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)nsv461674
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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