A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040189



Internal ID19129408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:134726215..134792348hg38UCSC Ensembl
Innerchr9:137618061..137684194hg19UCSC Ensembl
Innerchr9:136757882..136824015hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3866134
hg1966134
hg1866134
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7724n100
Supporting Variantsnssv3696436
Samples
Known GenesCOL5A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040189
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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