A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3648174



Internal ID18599769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:151257308..151325163hg38UCSC Ensembl
Innerchr5:150636869..150704724hg19UCSC Ensembl
Innerchr5:150617062..150684917hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3867856
hg1967856
hg1867856
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1032558
Supporting Variants
Samples
Known GenesGM2A, SLC36A2, SLC36A3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3648174
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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