A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005649



Internal ID19094866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:76675354..76933062hg38UCSC Ensembl
Innerchr1:77141039..77398747hg19UCSC Ensembl
Innerchr1:76913627..77171335hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38257709
hg19257709
hg18257709
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3473891
Samples
Known GenesST6GALNAC5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005649
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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