A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005985



Internal ID18748516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16864355..16932813hg38UCSC Ensembl
Innerchr1:17190850..17259308hg19UCSC Ensembl
Innerchr1:17063437..17131895hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3868459
hg1968459
hg1868459
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv105n100
Supporting Variantsnssv3700163, nssv3463958, nssv3463819, nssv3471459, nssv3474622, nssv3465016, nssv3475281, nssv3478304, nssv3477487, nssv3465511, nssv3478803, nssv3477593, nssv3477134, nssv3464270, nssv3481521, nssv3700162, nssv3469395, nssv3482657, nssv3479489, nssv3478592
Samples
Known GenesCROCC
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005985
Frequency
Sample Size29084
Observed Gain18
Observed Loss2
Observed Complex0
Frequencyn/a


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