A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998999



Internal ID18811849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1306835..1362063hg38UCSC Ensembl
Innerchr1:1242215..1297443hg19UCSC Ensembl
Innerchr1:1232078..1287306hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3855229
hg1955229
hg1855229
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7n100
Supporting Variantsnssv3479730
Samples
Known GenesACAP3, CPSF3L, DVL1, GLTPD1, MIR6727, MIR6808, MXRA8, PUSL1, TAS1R3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998999
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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