A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005553



Internal ID19094770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152492368..152546721hg38UCSC Ensembl
Innerchr1:152464844..152519197hg19UCSC Ensembl
Innerchr1:150731468..150785821hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3854354
hg1954354
hg1854354
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv415n100
Supporting Variantsnssv3490779
Samples
Known GenesCRCT1, LCE5A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005553
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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