A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004886



Internal ID18747417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73625398..73673729hg38UCSC Ensembl
Innerchr2:73852525..73900856hg19UCSC Ensembl
Innerchr2:73706033..73754364hg18UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3848332
hg1948332
hg1848332
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3868n100
Supporting Variantsnssv3577313
Samples
Known GenesALMS1P, NAT8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004886
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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