A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462549



Internal ID15175928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176132836..176384132hg38UCSC Ensembl
Innerchr5:175559839..175811133hg19UCSC Ensembl
Innerchr5:175492445..175743739hg18UCSC Ensembl
Innerchr5:175492445..175743739hg17UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38251297
hg19251295
hg18251295
hg17251295
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538686
SamplesHGDP01285
Known GenesARL10, KIAA1191, LOC643201, NOP16, SIMC1
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)nsv462549
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