A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3489862



Internal ID18730817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145642988..148991068hg38UCSC Ensembl
Innerchr1:144893406..145792052hg19UCSC Ensembl
Innerchr1:143604763..144503409hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg383348081
hg19898647
hg18898647
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1005055
Supporting Variants
Samples
Known GenesANKRD34A, ANKRD35, CD160, GNRHR2, GPR89A, HFE2, ITGA10, LIX1L, LOC100288142, LOC101929780, MIR6736, NBPF10, NBPF12, NBPF9, NOTCH2NL, NUDT17, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, SEC22B, TXNIP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3489862
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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