A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1755268



Internal ID17497316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:19305989..19309381hg38UCSC Ensembl
Innerchr1:19632483..19635875hg19UCSC Ensembl
Innerchr1:19505070..19508462hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg383393
hg193393
hg183393
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945808
Supporting Variants
SamplesHGDP01029
Known GenesAKR7A2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1755268
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer