A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001753



Internal ID18744284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16559628..16643493hg38UCSC Ensembl
Innerchr1:16886123..16969988hg19UCSC Ensembl
Innerchr1:16758710..16842575hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3883866
hg1983866
hg1883866
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv46n100
Supporting Variantsnssv3475737, nssv3469272
Samples
Known GenesCROCCP2, NBPF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001753
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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