A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542698



Internal ID15504531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:79881442..79980164hg38UCSC Ensembl
Innerchr10:81641198..81739920hg19UCSC Ensembl
Innerchr10:81631178..81729900hg18UCSC Ensembl
Innerchr10:81631178..81729900hg17UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg3898723
hg1998723
hg1898723
hg1798723
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467391
Supporting Variants
Samples1782681287_A
Known GenesLOC100288974, MBL1P, SFTPD
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)nssv542698
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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