A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006872



Internal ID18749403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:183194738..183548501hg38UCSC Ensembl
Innerchr3:182912526..183266289hg19UCSC Ensembl
Innerchr3:184395220..184748983hg18UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38353764
hg19353764
hg18353764
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3615002
Samples
Known GenesB3GNT5, KLHL6, LINC00888, MCF2L2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006872
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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