A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541421



Internal ID15165151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:174045369..174183550hg38UCSC Ensembl
Innerchr1:174014507..174152688hg19UCSC Ensembl
Innerchr1:172281130..172419311hg18UCSC Ensembl
Innerchr1:170746164..170884345hg17UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38138182
hg19138182
hg18138182
hg17138182
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465661
Supporting Variants
SamplesNINDS_156
Known GenesRABGAP1L
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)nssv541421
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