A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999833



Internal ID19159369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:210431390..210446867hg38UCSC Ensembl
Innerchr1:210604734..210620211hg19UCSC Ensembl
Innerchr1:208671357..208686834hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3815478
hg1915478
hg1815478
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3491097, nssv3496810
Samples
Known GenesHHAT
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999833
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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