A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543429



Internal ID15506823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:228493494..228543976hg38UCSC Ensembl
Innerchr1:228681195..228731677hg19UCSC Ensembl
Innerchr1:226747818..226798300hg18UCSC Ensembl
Innerchr1:224987930..225038412hg17UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3850483
hg1950483
hg1850483
hg1750483
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468305
Supporting Variants
SamplesHGDP00560
Known GenesRNF187
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)nssv543429
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer