A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006638



Internal ID18749169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16544771..16627335hg38UCSC Ensembl
Innerchr1:16871266..16953830hg19UCSC Ensembl
Innerchr1:16743853..16826417hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3882565
hg1982565
hg1882565
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv47n100
Supporting Variantsnssv3468446, nssv3469253, nssv3481793, nssv3698805, nssv3473386, nssv3467086, nssv3465170, nssv3463877, nssv3463611, nssv3473081, nssv3698806, nssv3475726, nssv3478814
Samples
Known GenesCROCCP2, MIR3675, NBPF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006638
Frequency
Sample Size29084
Observed Gain3
Observed Loss10
Observed Complex0
Frequencyn/a


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