A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005347



Internal ID18747878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:8992095..9056684hg38UCSC Ensembl
Innerchr1:9052154..9116743hg19UCSC Ensembl
Innerchr1:8974741..9039330hg18UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3864590
hg1964590
hg1864590
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv15n100
Supporting Variantsnssv3473524
Samples
Known GenesSLC2A5, SLC2A7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005347
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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