A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003065



Internal ID18745597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143538619..143845011hg38UCSC Ensembl
Innerchr1:148953984..149339573hg19UCSC Ensembl
Innerchr1:147220608..147606197hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38306393
hg19385590
hg18385590
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv360n100
Supporting Variantsnssv3488053
Samples
Known GenesLOC101929780, LOC388692, NBPF23
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003065
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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