A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1174550



Internal ID15509043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:79881442..79980164hg38UCSC Ensembl
Innerchr10:81641198..81739920hg19UCSC Ensembl
Innerchr10:81631178..81729900hg18UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg3898723
hg1998723
hg1898723
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv551632
Supporting Variants
Samples1782681287_A
Known GenesLOC100288974, MBL1P, SFTPD
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1174550
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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