A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535943



Internal ID15158908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:118952824..119514207hg38UCSC Ensembl
Innerchr2:119710400..120271783hg19UCSC Ensembl
Innerchr2:119426870..119988253hg18UCSC Ensembl
Innerchr2:119426630..119988013hg17UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38561384
hg19561384
hg18561384
hg17561384
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459119
Supporting Variants
SamplesHGDP00158
Known GenesC1QL2, C2orf76, DBI, MARCO, SCTR, STEAP3, TMEM37
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)nssv535943
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