A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000195



Internal ID18742726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16855930..16932813hg38UCSC Ensembl
Innerchr1:17182425..17259308hg19UCSC Ensembl
Innerchr1:17055012..17131895hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3876884
hg1976884
hg1876884
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv105n100
Supporting Variantsnssv3468435, nssv3469865, nssv3473088, nssv3471096, nssv3482267, nssv3466038, nssv3481725
Samples
Known GenesCROCC, MIR3675
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000195
Frequency
Sample Size29084
Observed Gain6
Observed Loss1
Observed Complex0
Frequencyn/a


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