A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009955



Internal ID19099174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148948615..149004156hg38UCSC Ensembl
Innerchr1:144880316..144935874hg19UCSC Ensembl
Innerchr1:143591673..143647231hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3855542
hg1955559
hg1855559
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3489668
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)nsv1009955
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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