A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032558



Internal ID18775092
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 StatusM
Merged Variants
Supporting Variantsnssv3648174
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)nsv1032558
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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