A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3702095



Internal ID19000376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148918473..148988777hg38UCSC Ensembl
Innerchr1:144895697..144966026hg19UCSC Ensembl
Innerchr1:143607054..143677383hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3870305
hg1970330
hg1870330
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1002034
Supporting Variants
Samples
Known GenesLOC100288142, NBPF12, NBPF9, PDE4DIP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3702095
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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