A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537386



Internal ID15161860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:27483806..27618848hg38UCSC Ensembl
Innerchr1:27810317..27945359hg19UCSC Ensembl
Innerchr1:27682904..27817946hg18UCSC Ensembl
Innerchr1:27494459..27629501hg17UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38135043
hg19135043
hg18135043
hg17135043
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460906
Supporting Variants
SamplesHGDP00861
Known GenesAHDC1, FGR, WASF2
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)nssv537386
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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