A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3647221



Internal ID18945502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:117694627..118714081hg38UCSC Ensembl
Innerchr5:117030322..118049776hg19UCSC Ensembl
Innerchr5:117058221..118077675hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg381019455
hg191019455
hg181019455
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1029239
Supporting Variants
Samples
Known GenesLOC100505811, LOC101927280, LOC102467224, LOC102467225
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3647221
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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