A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004732



Internal ID18747263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16609449..16643949hg38UCSC Ensembl
Innerchr1:16935944..16970444hg19UCSC Ensembl
Innerchr1:16808531..16843031hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3834501
hg1934501
hg1834501
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv64n100
Supporting Variantsnssv3474097, nssv3463690, nssv3472394, nssv3479513
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)nsv1004732
Frequency
Sample Size29084
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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