A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1786436



Internal ID17764141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119988968..120072130hg38UCSC Ensembl
Innerchr1:120531591..120614744hg19UCSC Ensembl
Innerchr1:120333114..120416267hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg3883163
hg1983154
hg1883154
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv946188
Supporting Variants
SamplesHGDP00542
Known GenesNOTCH2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1786436
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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